Canonical Allele Identifier: CA391360126

Gene: OCA2

Linked Data

• gnomAD v4: 15-27851439-C-G
• MyVariant Identifiers: chr15:g.28096585C>G (hg19) ; chr15:g.27851439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851439C>G , CM000677.2:g.27851439C>G	GRCh38
NC_000015.9:g.28096585C>G , CM000677.1:g.28096585C>G	GRCh37
NC_000015.8:g.25770180C>G	NCBI36
NG_009846.1:g.252874G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2281G>C MANE Select	ENSP00000346659.3:p.Val761Leu
ENST00000353809.9:c.2209G>C	ENSP00000261276.8:p.Val737Leu
ENST00000354638.7:c.2281G>C	ENSP00000346659.3:p.Val761Leu
NM_000275.2:c.2281G>C	NP_000266.2:p.Val761Leu
NM_001300984.1:c.2209G>C	NP_001287913.1:p.Val737Leu
XM_011521639.1:c.2347G>C	XP_011519941.1:p.Val783Leu
XM_011521640.1:c.2323G>C	XP_011519942.1:p.Val775Leu
XM_011521641.1:c.2305G>C	XP_011519943.1:p.Val769Leu
XM_011521642.1:c.2275G>C	XP_011519944.1:p.Val759Leu
XM_011521643.1:c.2233G>C	XP_011519945.1:p.Val745Leu
XM_011521644.1:c.2209G>C	XP_011519946.1:p.Val737Leu
XM_011521645.1:c.2140G>C	XP_011519947.1:p.Val714Leu
XM_011521640.2:c.2323G>C	XP_011519942.1:p.Val775Leu
XM_017022255.1:c.2347G>C	XP_016877744.1:p.Val783Leu
XM_017022256.1:c.2305G>C	XP_016877745.1:p.Val769Leu
XM_017022257.1:c.2275G>C	XP_016877746.1:p.Val759Leu
XM_017022258.1:c.2305G>C	XP_016877747.1:p.Val769Leu
XM_017022259.1:c.2233G>C	XP_016877748.1:p.Val745Leu
XM_017022260.1:c.2209G>C	XP_016877749.1:p.Val737Leu
XM_017022261.1:c.2152G>C	XP_016877750.1:p.Val718Leu
XM_017022262.1:c.2268+19715G>C	XP_016877751.1:n.2268+19715G>C
XM_017022263.1:c.2140G>C	XP_016877752.1:p.Val714Leu
XM_017022264.1:c.2140G>C	XP_016877753.1:p.Val714Leu
NM_000275.3:c.2281G>C MANE Select	NP_000266.2:p.Val761Leu
NM_001300984.2:c.2209G>C	NP_001287913.1:p.Val737Leu