Canonical Allele Identifier: CA488959085
Gene: OCA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.28096583A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27851437A>C , CM000677.2:g.27851437A>C GRCh38
NC_000015.9:g.28096583A>C , CM000677.1:g.28096583A>C GRCh37
NC_000015.8:g.25770178A>C NCBI36
NG_009846.1:g.252876T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.2283T>G MANE Select ENSP00000346659.3:p.Val761=
ENST00000353809.9:c.2211T>G ENSP00000261276.8:p.Val737=
ENST00000354638.7:c.2283T>G ENSP00000346659.3:p.Val761=
NM_000275.2:c.2283T>G NP_000266.2:p.Val761=
NM_001300984.1:c.2211T>G NP_001287913.1:p.Val737=
XM_011521639.1:c.2349T>G XP_011519941.1:p.Val783=
XM_011521640.1:c.2325T>G XP_011519942.1:p.Val775=
XM_011521641.1:c.2307T>G XP_011519943.1:p.Val769=
XM_011521642.1:c.2277T>G XP_011519944.1:p.Val759=
XM_011521643.1:c.2235T>G XP_011519945.1:p.Val745=
XM_011521644.1:c.2211T>G XP_011519946.1:p.Val737=
XM_011521645.1:c.2142T>G XP_011519947.1:p.Val714=
XM_011521640.2:c.2325T>G XP_011519942.1:p.Val775=
XM_017022255.1:c.2349T>G XP_016877744.1:p.Val783=
XM_017022256.1:c.2307T>G XP_016877745.1:p.Val769=
XM_017022257.1:c.2277T>G XP_016877746.1:p.Val759=
XM_017022258.1:c.2307T>G XP_016877747.1:p.Val769=
XM_017022259.1:c.2235T>G XP_016877748.1:p.Val745=
XM_017022260.1:c.2211T>G XP_016877749.1:p.Val737=
XM_017022261.1:c.2154T>G XP_016877750.1:p.Val718=
XM_017022262.1:c.2268+19717T>G XP_016877751.1:n.2268+19717T>G
XM_017022263.1:c.2142T>G XP_016877752.1:p.Val714=
XM_017022264.1:c.2142T>G XP_016877753.1:p.Val714=
NM_000275.3:c.2283T>G MANE Select NP_000266.2:p.Val761=
NM_001300984.2:c.2211T>G NP_001287913.1:p.Val737=