Canonical Allele Identifier: CA2166456149

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28083520_28083526delinsCCTGGTA , CM000677.2:g.28083520_28083526delinsCCTGGTA	GRCh38
NC_000015.9:g.28328666_28328672delinsCCTGGTA , CM000677.1:g.28328666_28328672delinsCCTGGTA	GRCh37
NC_000015.8:g.26002261_26002267delinsCCTGGTA	NCBI36
NG_009846.1:g.20787_20793delinsTACCAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.-21-1631_-21-1625delinsTACCAGG MANE Select	ENSP00000346659.3:n.-21-1631_-21-1625deli...
ENST00000353809.9:c.-21-1631_-21-1625delinsTACCAGG	ENSP00000261276.8:n.-21-1631_-21-1625deli...
ENST00000354638.7:c.-21-1631_-21-1625delinsTACCAGG	ENSP00000346659.3:n.-21-1631_-21-1625deli...
ENST00000431101.1:c.-21-1631_-21-1625delinsTACCAGG	ENSP00000415431.1:n.-21-1631_-21-1625deli...
ENST00000445578.5:c.-21-1631_-21-1625delinsTACCAGG	ENSP00000414425.1:n.-21-1631_-21-1625deli...
NM_000275.2:c.-21-1631_-21-1625delinsTACCAGG	NP_000266.2:n.-21-1631_-21-1625delinsTACC...
NM_001300984.1:c.-21-1631_-21-1625delinsTACCAGG	NP_001287913.1:n.-21-1631_-21-1625delinsT...
XM_011521639.1:c.-591-6_-591delinsTACCAGG
XM_011521640.1:c.-21-1631_-21-1625delinsTACCAGG	XP_011519942.1:n.-21-1631_-21-1625delinsT...
XM_011521641.1:c.-591-6_-591delinsTACCAGG
XM_011521642.1:c.-591-6_-591delinsTACCAGG
XM_011521643.1:c.-591-6_-591delinsTACCAGG
XM_011521644.1:c.-591-6_-591delinsTACCAGG
XM_011521645.1:c.-591-6_-591delinsTACCAGG
XM_011521646.1:c.-591-6_-591delinsTACCAGG
XM_011521647.1:c.-591-6_-591delinsTACCAGG
XR_931843.1:n.771-6_771delinsTACCAGG
XM_011521640.2:c.-21-1631_-21-1625delinsTACCAGG	XP_011519942.1:n.-21-1631_-21-1625delinsT...
NM_000275.3:c.-21-1631_-21-1625delinsTACCAGG MANE Select	NP_000266.2:n.-21-1631_-21-1625delinsTACC...
NM_001300984.2:c.-21-1631_-21-1625delinsTACCAGG	NP_001287913.1:n.-21-1631_-21-1625delinsT...