Canonical Allele Identifier: CA391359925

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28228625A>G (hg19) ; chr15:g.27983479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983479A>G , CM000677.2:g.27983479A>G	GRCh38
NC_000015.9:g.28228625A>G , CM000677.1:g.28228625A>G	GRCh37
NC_000015.8:g.25902220A>G	NCBI36
NG_009846.1:g.120834T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1369T>C MANE Select	ENSP00000346659.3:p.Cys457Arg
ENST00000353809.9:c.1297T>C	ENSP00000261276.8:p.Cys433Arg
ENST00000354638.7:c.1369T>C	ENSP00000346659.3:p.Cys457Arg
NM_000275.2:c.1369T>C	NP_000266.2:p.Cys457Arg
NM_001300984.1:c.1297T>C	NP_001287913.1:p.Cys433Arg
XM_011521639.1:c.1393T>C	XP_011519941.1:p.Cys465Arg
XM_011521640.1:c.1369T>C	XP_011519942.1:p.Cys457Arg
XM_011521641.1:c.1393T>C	XP_011519943.1:p.Cys465Arg
XM_011521642.1:c.1321T>C	XP_011519944.1:p.Cys441Arg
XM_011521643.1:c.1321T>C	XP_011519945.1:p.Cys441Arg
XM_011521644.1:c.1255T>C	XP_011519946.1:p.Cys419Arg
XM_011521645.1:c.1393T>C	XP_011519947.1:p.Cys465Arg
XM_011521646.1:c.1393T>C	XP_011519948.1:p.Cys465Arg
XM_011521647.1:c.1393T>C	XP_011519949.1:p.Cys465Arg
XR_931843.1:n.2754T>C
XM_011521640.2:c.1369T>C	XP_011519942.1:p.Cys457Arg
XM_017022255.1:c.1393T>C	XP_016877744.1:p.Cys465Arg
XM_017022256.1:c.1393T>C	XP_016877745.1:p.Cys465Arg
XM_017022257.1:c.1321T>C	XP_016877746.1:p.Cys441Arg
XM_017022258.1:c.1393T>C	XP_016877747.1:p.Cys465Arg
XM_017022259.1:c.1321T>C	XP_016877748.1:p.Cys441Arg
XM_017022260.1:c.1255T>C	XP_016877749.1:p.Cys419Arg
XM_017022261.1:c.1198T>C	XP_016877750.1:p.Cys400Arg
XM_017022262.1:c.1393T>C	XP_016877751.1:p.Cys465Arg
XM_017022263.1:c.1393T>C	XP_016877752.1:p.Cys465Arg
XM_017022264.1:c.1393T>C	XP_016877753.1:p.Cys465Arg
XM_017022265.1:c.1393T>C	XP_016877754.1:p.Cys465Arg
XR_001751294.1:n.1482T>C
NM_000275.3:c.1369T>C MANE Select	NP_000266.2:p.Cys457Arg
NM_001300984.2:c.1297T>C	NP_001287913.1:p.Cys433Arg