Canonical Allele Identifier: CA2166351987

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851383_27851384delinsTC , CM000677.2:g.27851383_27851384delinsTC	GRCh38
NC_000015.9:g.28096529_28096530delinsTC , CM000677.1:g.28096529_28096530delinsTC	GRCh37
NC_000015.8:g.25770124_25770125delinsTC	NCBI36
NG_009846.1:g.252929_252930delinsGA

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2336_2337delinsGA MANE Select	ENSP00000346659.3:p.Gly779=
ENST00000353809.9:c.2264_2265delinsGA	ENSP00000261276.8:p.Gly755=
ENST00000354638.7:c.2336_2337delinsGA	ENSP00000346659.3:p.Gly779=
NM_000275.2:c.2336_2337delinsGA	NP_000266.2:p.Gly779=
NM_001300984.1:c.2264_2265delinsGA	NP_001287913.1:p.Gly755=
XM_011521639.1:c.2402_2403delinsGA	XP_011519941.1:p.Gly801=
XM_011521640.1:c.2378_2379delinsGA	XP_011519942.1:p.Gly793=
XM_011521641.1:c.2360_2361delinsGA	XP_011519943.1:p.Gly787=
XM_011521642.1:c.2330_2331delinsGA	XP_011519944.1:p.Gly777=
XM_011521643.1:c.2288_2289delinsGA	XP_011519945.1:p.Gly763=
XM_011521644.1:c.2264_2265delinsGA	XP_011519946.1:p.Gly755=
XM_011521645.1:c.2195_2196delinsGA	XP_011519947.1:p.Gly732=
XM_011521640.2:c.2378_2379delinsGA	XP_011519942.1:p.Gly793=
XM_017022255.1:c.2402_2403delinsGA	XP_016877744.1:p.Gly801=
XM_017022256.1:c.2360_2361delinsGA	XP_016877745.1:p.Gly787=
XM_017022257.1:c.2330_2331delinsGA	XP_016877746.1:p.Gly777=
XM_017022258.1:c.2360_2361delinsGA	XP_016877747.1:p.Gly787=
XM_017022259.1:c.2288_2289delinsGA	XP_016877748.1:p.Gly763=
XM_017022260.1:c.2264_2265delinsGA	XP_016877749.1:p.Gly755=
XM_017022261.1:c.2207_2208delinsGA	XP_016877750.1:p.Gly736=
XM_017022262.1:c.2268+19770_2268+19771delinsGA	XP_016877751.1:n.2268+19770_2268+19771del...
XM_017022263.1:c.2195_2196delinsGA	XP_016877752.1:p.Gly732=
XM_017022264.1:c.2195_2196delinsGA	XP_016877753.1:p.Gly732=
NM_000275.3:c.2336_2337delinsGA MANE Select	NP_000266.2:p.Gly779=
NM_001300984.2:c.2264_2265delinsGA	NP_001287913.1:p.Gly755=