SHC2 SHC adaptor protein 2

Canonical transcript: NM_012435

45 unique variant annotations were identified in 36 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
19-420755-G-A c.1620+1391C>T - IntronicSNV - 11/12 1
19-420755-G-T c.1620+1391C>A - IntronicSNV - 11/12 1
19-422171-A-C c.1595T>G p.Leu532Arg Missense 11/13 - 1
19-425102-T-A c.1304A>T p.Asp435Val Missense 10/13 - 1
19-428608-A-G c.1174+2076T>C - IntronicSNV - 9/12 1
19-430727-TCT-CAT c.1130_1131delinsTG p.Arg377Met Missense 9/13 - 1
19-434161-A-C c.1110+548T>G - IntronicSNV - 8/12 1
19-434731-C-G c.1088G>C p.Cys363Ser Missense 8/13 - 1
19-434732-A-T c.1087T>A p.Cys363Ser Missense 8/13 - 1
19-434763-TAG-TTT c.1054_1055delinsAA p.Leu352Lys Missense 8/13 - 1
19-434847-C-A c.972G>T p.Glu324Asp Missense 8/13 - 1
19-434847-C-T c.972G>A p.Glu324Glu Synonymous 8/13 - 1
19-436195-C-T c.923G>A p.Ser308Asn Missense 7/13 - 1
19-436408-G-C c.798C>G p.Tyr266* Nonsense 6/13 - 1
19-436408-G-T c.798C>A p.Tyr266* Nonsense 6/13 - 1
19-436415-A-G c.791T>C p.Val264Ala Missense 6/13 - 1
19-436676-G-C c.728C>G p.Ala243Gly Missense 5/13 - 1
19-438823-G-A c.615C>T p.Ala205Ala Synonymous 4/13 - 1
19-438823-G-C c.615C>G p.Ala205Ala Synonymous 4/13 - 1
19-438823-G-T c.615C>A p.Ala205Ala Synonymous 4/13 - 1
19-438830-T-C c.608A>G p.Asn203Ser Missense 4/13 - 1
19-439055-G-A c.540-25C>T - IntronicSNV - 2/12 1
19-441195-C-G c.469-263G>C - IntronicSNV - 1/12 1
19-441195-C-T c.469-263G>A - IntronicSNV - 1/12 1
19-450515-C-T c.469-9583G>A - IntronicSNV - 1/12 1
19-454430-G-A c.468+6099C>T - IntronicSNV - 1/12 2
19-457805-C-G c.468+2724G>C - IntronicSNV - 1/12 1
19-457805-C-T c.468+2724G>A - IntronicSNV - 1/12 1
19-458010-A-C c.468+2519T>G - IntronicSNV - 1/12 1
19-458010-A-G c.468+2519T>C - IntronicSNV - 1/12 1
19-458032-A-C c.468+2497T>G - IntronicSNV - 1/12 1
19-458032-A-G c.468+2497T>C - IntronicSNV - 1/12 1
19-460616-CC-AT c.380_381delinsAT p.Arg127His Missense 1/13 - 1
19-460668-C-A c.329G>T p.Gly110Val Missense 1/13 - 1
19-460668-CC-AT c.328_329delinsAT p.Gly110Met Missense 1/13 - 1
19-460668-C-G c.329G>C p.Gly110Ala Missense 1/13 - 2
19-460816-C-T c.181G>A p.Asp61Asn Missense 1/13 - 1
19-460905-C-G c.92G>C p.Arg31Pro Missense 1/13 - 1
19-460918-C-T c.79G>A p.Ala27Thr Missense 1/13 - 1
19-460934-CG-AC c.62_63delinsGT p.Ala21Gly Missense 1/13 - 1
19-460962-GC-TA c.34_35delinsTA p.Ala12* Nonsense 1/13 - 1
19-460968-GG-GA c.28delinsT p.Pro10Ser Missense 1/13 - 1
19-460970-C-A c.27G>T p.Ala9Ala Synonymous 1/13 - 1
19-460970-C-G c.27G>C p.Ala9Ala Synonymous 1/13 - 1
19-460970-C-T c.27G>A p.Ala9Ala Synonymous 1/13 - 1