MYL2 myosin light chain 2

Canonical transcript: NM_000432

107 unique variant annotations were identified in 135 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
12-111348886-C-G c.496G>C p.Asp166His Missense 7/7 - 1
12-111348894-T-G c.488A>C p.Glu163Ala Missense 7/7 - 1
12-111348898-C-T c.484G>A p.Gly162Arg Missense 7/7 - 6
12-111348900-T-C c.482A>G p.His161Arg Missense 7/7 - 3
12-111348913-G-A c.469C>T p.His157Tyr Missense 7/7 - 1
12-111348916-C-T c.466G>A p.Val156Met Missense 7/7 - 1
12-111348923-C-A c.459G>T p.Lys153Asn Missense 7/7 - 1
12-111348923-C-G c.459G>C p.Lys153Asn Missense 7/7 - 1
12-111348927-T-A c.455A>T p.Tyr152Phe Missense 7/7 - 1
12-111348934-A-C c.448T>G p.Leu150Val Missense 7/7 - 1
12-111348949-C-T c.433G>A p.Asp145Asn Missense 7/7 - 1
12-111348950-CA-C c.432del p.Asp145Thrfs*2 Frameshift 7/7 - 1
12-111348950-CAG-C c.431_432del p.Pro144Argfs*57 Frameshift 7/7 - 2
12-111348954-G-A c.428C>T p.Pro143Leu Missense 7/7 - 2
12-111348956-GG-G c.431del p.Pro144Leufs*3 Frameshift 7/7 - 2
12-111348980-C-A c.403-1G>T - IntronicSNV - 6/6 2
12-111348980-C-G c.403-1G>C - IntronicSNV - 6/6 5
12-111348980-C-T c.403-1G>A - IntronicSNV - 6/6 2
12-111349223-A-G c.403-244T>C - IntronicSNV - 6/6 5
12-111349849-A-G c.403-870T>C - IntronicSNV - 6/6 4
12-111350457-G-A c.402+443C>T - IntronicSNV - 6/6 1
12-111350531-G-A c.402+369C>T - IntronicSNV - 6/6 2
12-111350655-A-G c.402+245T>C - IntronicSNV - 6/6 17
12-111350771-C-T c.402+129G>A - IntronicSNV - 6/6 5
12-111350894-C-G c.402+6G>C - IntronicSNV - 6/6 1
12-111350901-T-G c.401A>C p.Glu134Ala Missense 6/7 - 16
12-111350926-G-A c.376C>T p.Gln126* Nonsense 6/7 - 1
12-111350943-C-T c.359G>A p.Arg120Gln Missense 6/7 - 2
12-111350944-G-C c.358C>G p.Arg120Gly Missense 6/7 - 2
12-111350999-G-A c.353+51C>T - IntronicSNV - 5/6 1
12-111351008-G-GG c.353+46dup - IntronicInsertion - 5/6 1
12-111351034-CC-C c.353+20del - IntronicDeletion - 5/6 1
12-111351044-A-T c.353+6T>A - IntronicSNV - 5/6 1
12-111351047-C-T c.353+3G>A - IntronicSNV - 5/6 1
12-111351056-G-A c.347C>T p.Ala116Val Missense 5/7 - 1
12-111351088-CAC-TGT c.313_315delinsACA p.Val105Thr Missense 5/7 - 1
12-111351093-T-C c.310A>G p.Lys104Glu Missense 5/7 - 7
12-111351099-C-T c.304G>A p.Ala102Thr Missense 5/7 - 2
12-111351114-C-A c.289G>T p.Glu97* Nonsense 5/7 - 1
12-111351119-G-C c.284C>G p.Pro95Arg Missense 5/7 - 2
12-111351120-G-C c.283C>G p.Pro95Ala Missense 5/7 - 7
12-111351122-T-G c.281A>C p.Asp94Ala Missense 5/7 - 5
12-111351186-C-T c.275-58G>A - IntronicSNV - 4/6 7
12-111351439-T-G c.275-311A>C - IntronicSNV - 4/6 3
12-111351599-A-C c.274+391T>G - IntronicSNV - 4/6 1
12-111351599-A-G c.274+391T>C - IntronicSNV - 4/6 1
12-111351937-C-A c.274+53G>T - IntronicSNV - 4/6 5
12-111351937-C-G c.274+53G>C - IntronicSNV - 4/6 5
12-111351937-C-T c.274+53G>A - IntronicSNV - 4/6 6
12-111351963-G-T c.274+27C>A - IntronicSNV - 4/6 1
12-111352002-C-T c.262G>A p.Glu88Lys Missense 4/7 - 2
12-111352004-C-G c.260G>C p.Gly87Ala Missense 4/7 - 1
12-111352007-A-G c.257T>C p.Phe86Ser Missense 4/7 - 1
12-111352025-G-T c.239C>A p.Thr80Asn Missense 4/7 - 1
12-111352057-C-A c.207G>T p.Met69Ile Missense 4/7 - 2
12-111352058-A-G c.206T>C p.Met69Thr Missense 4/7 - 1
12-111352080-T-A c.184A>T p.Lys62* Nonsense 4/7 - 2
12-111352080-TT-T c.188del p.Asn63Metfs*7 Frameshift 4/7 - 1
12-111352091-C-A c.173G>T p.Arg58Leu Missense 4/7 - 1
12-111352091-C-T c.173G>A p.Arg58Gln Missense 4/7 - 31
12-111352094-C-T c.170G>A p.Gly57Glu Missense 4/7 - 3
12-111352478-A-G c.170-384T>C - IntronicSNV - 3/6 1
12-111352848-A-C c.169+671T>G - IntronicSNV - 3/6 4
12-111352848-A-G c.169+671T>C - IntronicSNV - 3/6 4
12-111353161-A-G c.169+358T>C - IntronicSNV - 3/6 2
12-111353519-C-G c.169G>C p.Gly57Arg Missense 3/7 - 1
12-111353519-C-T c.169G>A p.Gly57Arg Missense 3/7 - 1
12-111353525-C-A c.163G>T p.Ala55Ser Missense 3/7 - 1
12-111353539-C-T c.149G>A p.Arg50Lys Missense 3/7 - 1
12-111353547-G-T c.141C>A p.Asn47Lys Missense 3/7 - 13
12-111353556-A-C c.132T>G p.Ile44Met Missense 3/7 - 4
12-111353556-A-G c.132T>C p.Ile44Ile Synonymous 3/7 - 10
12-111353585-T-C c.103A>G p.Ile35Val Missense 3/7 - 2
12-111353762-C-T c.94-168G>A - IntronicSNV - 2/6 1
12-111354106-T-C c.94-512A>G - IntronicSNV - 2/6 1
12-111354623-C-T c.94-1029G>A - IntronicSNV - 2/6 1
12-111354700-C-T c.94-1106G>A - IntronicSNV - 2/6 1
12-111354703-A-T c.94-1109T>A - IntronicSNV - 2/6 1
12-111355100-A-T c.94-1506T>A - IntronicSNV - 2/6 3
12-111355206-G-A c.94-1612C>T - IntronicSNV - 2/6 1
12-111355206-G-T c.94-1612C>A - IntronicSNV - 2/6 1
12-111355326-G-A c.93+1582C>T - IntronicSNV - 2/6 4
12-111355606-G-A c.93+1302C>T - IntronicSNV - 2/6 5
12-111356922-G-C c.79C>G p.Gln27Glu Missense 2/7 - 1
12-111356937-C-A c.64G>T p.Glu22* Nonsense 2/7 - 2
12-111356937-C-G c.64G>C p.Glu22Gln Missense 2/7 - 1
12-111356937-C-T c.64G>A p.Glu22Lys Missense 2/7 - 20
12-111356942-A-T c.59T>A p.Met20Lys Missense 2/7 - 1
12-111356943-T-G c.58A>C p.Met20Leu Missense 2/7 - 5
12-111356948-A-C c.53T>G p.Phe18Cys Missense 2/7 - 1
12-111356948-A-G c.53T>C p.Phe18Ser Missense 2/7 - 1
12-111356948-A-T c.53T>A p.Phe18Tyr Missense 2/7 - 1
12-111356947-G-C c.54C>G p.Phe18Leu Missense 2/7 - 9
12-111356947-G-T c.54C>A p.Phe18Leu Missense 2/7 - 9
12-111356949-A-C c.52T>G p.Phe18Val Missense 2/7 - 1
12-111356949-A-G c.52T>C p.Phe18Leu Missense 2/7 - 9
12-111356949-A-T c.52T>A p.Phe18Ile Missense 2/7 - 1
12-111356958-A-C c.43T>G p.Ser15Ala Missense 2/7 - 5
12-111356964-C-T c.37G>A p.Ala13Thr Missense 2/7 - 19
12-111356967-C-T c.34G>A p.Gly12Ser Missense 2/7 - 1
12-111356974-TCT-TGT c.26delinsC p.Arg9Thr Missense 2/7 - 1
12-111357000-G-C c.4-3C>G - IntronicSNV - 1/6 1
12-111357000-G-T c.4-3C>A - IntronicSNV - 1/6 1
12-111357074-T-A c.4-77A>T - IntronicSNV - 1/6 4
12-111357471-C-T c.4-474G>A - IntronicSNV - 1/6 3
12-111357727-G-A c.3+604C>T - IntronicSNV - 1/6 1
12-111358337-G-A c.-4C>T - 5-UTRSNV 1/7 - 1