Canonical Allele Identifier: CA2166456380

Gene: OCA2

Linked Data

• dbSNP Id: rs2044720802
• gnomAD v3: 15-28083686-T-G
• gnomAD v4: 15-28083686-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.28083686T>G , CM000677.2:g.28083686T>G	GRCh38
NC_000015.9:g.28328832T>G , CM000677.1:g.28328832T>G	GRCh37
NC_000015.8:g.26002427T>G	NCBI36
NG_009846.1:g.20627A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.-21-1791A>C MANE Select	ENSP00000346659.3:n.-21-1791A>C
ENST00000353809.9:c.-21-1791A>C	ENSP00000261276.8:n.-21-1791A>C
ENST00000354638.7:c.-21-1791A>C	ENSP00000346659.3:n.-21-1791A>C
ENST00000431101.1:c.-21-1791A>C	ENSP00000415431.1:n.-21-1791A>C
ENST00000445578.5:c.-21-1791A>C	ENSP00000414425.1:n.-21-1791A>C
NM_000275.2:c.-21-1791A>C	NP_000266.2:n.-21-1791A>C
NM_001300984.1:c.-21-1791A>C	NP_001287913.1:n.-21-1791A>C
XM_011521639.1:c.-591-166A>C	XP_011519941.1:n.-591-166A>C
XM_011521640.1:c.-21-1791A>C	XP_011519942.1:n.-21-1791A>C
XM_011521641.1:c.-591-166A>C	XP_011519943.1:n.-591-166A>C
XM_011521642.1:c.-591-166A>C	XP_011519944.1:n.-591-166A>C
XM_011521643.1:c.-591-166A>C	XP_011519945.1:n.-591-166A>C
XM_011521644.1:c.-591-166A>C	XP_011519946.1:n.-591-166A>C
XM_011521645.1:c.-591-166A>C	XP_011519947.1:n.-591-166A>C
XM_011521646.1:c.-591-166A>C	XP_011519948.1:n.-591-166A>C
XM_011521647.1:c.-591-166A>C	XP_011519949.1:n.-591-166A>C
XR_931843.1:n.771-166A>C
XM_011521640.2:c.-21-1791A>C	XP_011519942.1:n.-21-1791A>C
NM_000275.3:c.-21-1791A>C MANE Select	NP_000266.2:n.-21-1791A>C
NM_001300984.2:c.-21-1791A>C	NP_001287913.1:n.-21-1791A>C