COG2 component of oligomeric golgi complex 2

Canonical transcript: NM_007357

32 unique variant annotations were identified in 35 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
1-230778386-C-G c.34C>G p.Pro12Ala Missense 1/18 - 1
1-230781741-G-A c.72+3317G>A - IntronicSNV - 1/17 4
1-230795321-G-A c.184G>A p.Glu62Lys Missense 2/18 - 1
1-230800295-T-C c.447T>C p.Ser149Ser Synonymous 5/18 - 1
1-230805194-C-T c.687C>T p.His229His Synonymous 7/18 - 1
1-230805208-A-AA c.701dup p.Tyr234* Nonsense 7/18 - 3
1-230805246-G-C c.739G>C p.Val247Leu Missense 7/18 - 1
1-230808246-C-T c.899+860C>T - IntronicSNV - 8/17 1
1-230813314-A-T c.1027-1345A>T - IntronicSNV - 9/17 1
1-230814797-A-G c.1165A>G p.Arg389Gly Missense 10/18 - 1
1-230815197-G-A c.1166+399G>A - IntronicSNV - 10/17 1
1-230815481-T-G c.1166+683T>G - IntronicSNV - 10/17 1
1-230818304-G-A c.1167-1016G>A - IntronicSNV - 10/17 1
1-230818841-G-T c.1167-479G>T - IntronicSNV - 10/17 2
1-230819355-T-A c.1202T>A p.Leu401His Missense 11/18 - 1
1-230820021-A-G c.1228+640A>G - IntronicSNV - 11/17 1
1-230820351-A-G c.1229-480A>G - IntronicSNV - 11/17 1
1-230820578-G-A c.1229-253G>A - IntronicSNV - 11/17 2
1-230820605-G-T c.1229-226G>T - IntronicSNV - 11/17 1
1-230820630-G-A c.1229-201G>A - IntronicSNV - 11/17 1
1-230820904-TG-T c.1302del p.Met434Ilefs*46 Frameshift 12/18 - 1
1-230822720-A-G c.1420A>G p.Ile474Val Missense 13/18 - 2
1-230822756-TC-AA c.1456_1457delinsAA p.Ser486Asn Missense 13/18 - 1
1-230822832-C-G c.1532C>G p.Thr511Ser Missense 13/18 - 1
1-230823832-G-A c.1594G>A p.Glu532Lys Missense 14/18 - 1
1-230824171-C-G c.1657C>G p.Leu553Val Missense 15/18 - 1
1-230824279-G-A c.1765G>A p.Val589Ile Missense 15/18 - 1
1-230824279-G-C c.1765G>C p.Val589Leu Missense 15/18 - 1
1-230825794-G-T c.1829G>T p.Ser610Ile Missense 16/18 - 1
1-230825865-T-G c.1900T>G p.Trp634Gly Missense 16/18 - 3
1-230828873-A-G c.2116-165A>G - IntronicSNV - 17/17 3
1-230829139-A-G c.2217A>G p.*739* Synonymous 18/18 - 2