Canonical Allele Identifier: CA391361198

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926194T>G , CM000677.2:g.27926194T>G	GRCh38
NC_000015.9:g.28171340T>G , CM000677.1:g.28171340T>G	GRCh37
NC_000015.8:g.25844935T>G	NCBI36
NG_009846.1:g.178119A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000275.3:c.2012A>C MANE Select	NP_000266.2:p.Glu671Ala
ENST00000354638.8:c.2012A>C MANE Select	ENSP00000346659.3:p.Glu671Ala
NM_000275.2:c.2012A>C	NP_000266.2:p.Glu671Ala
NM_001300984.1:c.1940A>C	NP_001287913.1:p.Glu647Ala
NM_001300984.2:c.1940A>C	NP_001287913.1:p.Glu647Ala
ENST00000353809.9:c.1940A>C	ENSP00000261276.8:p.Glu647Ala
ENST00000354638.7:c.2012A>C	ENSP00000346659.3:p.Glu671Ala
XM_011521639.1:c.2036A>C	XP_011519941.1:p.Glu679Ala
XM_011521640.1:c.2012A>C	XP_011519942.1:p.Glu671Ala
XM_011521640.2:c.2012A>C	XP_011519942.1:p.Glu671Ala
XM_011521641.1:c.2036A>C	XP_011519943.1:p.Glu679Ala
XM_011521642.1:c.1964A>C	XP_011519944.1:p.Glu655Ala
XM_011521643.1:c.1964A>C	XP_011519945.1:p.Glu655Ala
XM_011521644.1:c.1898A>C	XP_011519946.1:p.Glu633Ala
XM_011521645.1:c.2036A>C	XP_011519947.1:p.Glu679Ala
XM_017022255.1:c.2036A>C	XP_016877744.1:p.Glu679Ala
XM_017022256.1:c.2036A>C	XP_016877745.1:p.Glu679Ala
XM_017022257.1:c.1964A>C	XP_016877746.1:p.Glu655Ala
XM_017022258.1:c.2036A>C	XP_016877747.1:p.Glu679Ala
XM_017022259.1:c.1964A>C	XP_016877748.1:p.Glu655Ala
XM_017022260.1:c.1898A>C	XP_016877749.1:p.Glu633Ala
XM_017022261.1:c.1841A>C	XP_016877750.1:p.Glu614Ala
XM_017022262.1:c.2036A>C	XP_016877751.1:p.Glu679Ala
XM_017022263.1:c.2036A>C	XP_016877752.1:p.Glu679Ala
XM_017022264.1:c.2036A>C	XP_016877753.1:p.Glu679Ala