Canonical Allele Identifier: CA7439224
Gene: OCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 255717
dbSNP Id: rs373775562

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.27990612G>A , CM000677.2:g.27990612G>A GRCh38
NC_000015.9:g.28235758G>A , CM000677.1:g.28235758G>A GRCh37
NC_000015.8:g.25909353G>A NCBI36
NG_009846.1:g.113701C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000354638.8:c.1080C>T MANE Select ENSP00000346659.3:p.Ser360=
ENST00000353809.9:c.1045-946C>T ENSP00000261276.8:n.1045-946C>T
ENST00000354638.7:c.1080C>T ENSP00000346659.3:p.Ser360=
NM_000275.2:c.1080C>T NP_000266.2:p.Ser360=
NM_001300984.1:c.1045-946C>T NP_001287913.1:n.1045-946C>T
XM_011521639.1:c.1104C>T XP_011519941.1:p.Ser368=
XM_011521640.1:c.1080C>T XP_011519942.1:p.Ser360=
XM_011521641.1:c.1104C>T XP_011519943.1:p.Ser368=
XM_011521642.1:c.1069-946C>T XP_011519944.1:n.1069-946C>T
XM_011521643.1:c.1069-946C>T XP_011519945.1:n.1069-946C>T
XM_011521644.1:c.1069-3969C>T XP_011519946.1:n.1069-3969C>T
XM_011521645.1:c.1104C>T XP_011519947.1:p.Ser368=
XM_011521646.1:c.1104C>T XP_011519948.1:p.Ser368=
XM_011521647.1:c.1104C>T XP_011519949.1:p.Ser368=
XR_931843.1:n.2465C>T
XM_011521640.2:c.1080C>T XP_011519942.1:p.Ser360=
XM_017022255.1:c.1104C>T XP_016877744.1:p.Ser368=
XM_017022256.1:c.1104C>T XP_016877745.1:p.Ser368=
XM_017022257.1:c.1069-946C>T XP_016877746.1:n.1069-946C>T
XM_017022258.1:c.1104C>T XP_016877747.1:p.Ser368=
XM_017022259.1:c.1069-946C>T XP_016877748.1:n.1069-946C>T
XM_017022260.1:c.1069-3969C>T XP_016877749.1:n.1069-3969C>T
XM_017022261.1:c.909C>T XP_016877750.1:p.Ser303=
XM_017022262.1:c.1104C>T XP_016877751.1:p.Ser368=
XM_017022263.1:c.1104C>T XP_016877752.1:p.Ser368=
XM_017022264.1:c.1104C>T XP_016877753.1:p.Ser368=
XM_017022265.1:c.1104C>T XP_016877754.1:p.Ser368=
XR_001751294.1:n.1193C>T
NM_000275.3:c.1080C>T MANE Select NP_000266.2:p.Ser360=
NM_001300984.2:c.1045-946C>T NP_001287913.1:n.1045-946C>T