Canonical Allele Identifier: CA7438650

Gene: OCA2

Linked Data

• ClinVar Variation Id: 886067
• ClinVar RCV Id: RCV001118036 ; RCV002069906
• dbSNP Id: rs144064082
• ExAC: 15:28096570 G / T
• gnomAD v2: 15-28096570-G-T
• gnomAD v3: 15-27851424-G-T
• gnomAD v4: 15-27851424-G-T
• MyVariant Identifiers: chr15:g.28096570G>T (hg19) ; chr15:g.27851424G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851424G>T , CM000677.2:g.27851424G>T	GRCh38
NC_000015.9:g.28096570G>T , CM000677.1:g.28096570G>T	GRCh37
NC_000015.8:g.25770165G>T	NCBI36
NG_009846.1:g.252889C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2296C>A MANE Select	ENSP00000346659.3:p.Pro766Thr
ENST00000353809.9:c.2224C>A	ENSP00000261276.8:p.Pro742Thr
ENST00000354638.7:c.2296C>A	ENSP00000346659.3:p.Pro766Thr
NM_000275.2:c.2296C>A	NP_000266.2:p.Pro766Thr
NM_001300984.1:c.2224C>A	NP_001287913.1:p.Pro742Thr
XM_011521639.1:c.2362C>A	XP_011519941.1:p.Pro788Thr
XM_011521640.1:c.2338C>A	XP_011519942.1:p.Pro780Thr
XM_011521641.1:c.2320C>A	XP_011519943.1:p.Pro774Thr
XM_011521642.1:c.2290C>A	XP_011519944.1:p.Pro764Thr
XM_011521643.1:c.2248C>A	XP_011519945.1:p.Pro750Thr
XM_011521644.1:c.2224C>A	XP_011519946.1:p.Pro742Thr
XM_011521645.1:c.2155C>A	XP_011519947.1:p.Pro719Thr
XM_011521640.2:c.2338C>A	XP_011519942.1:p.Pro780Thr
XM_017022255.1:c.2362C>A	XP_016877744.1:p.Pro788Thr
XM_017022256.1:c.2320C>A	XP_016877745.1:p.Pro774Thr
XM_017022257.1:c.2290C>A	XP_016877746.1:p.Pro764Thr
XM_017022258.1:c.2320C>A	XP_016877747.1:p.Pro774Thr
XM_017022259.1:c.2248C>A	XP_016877748.1:p.Pro750Thr
XM_017022260.1:c.2224C>A	XP_016877749.1:p.Pro742Thr
XM_017022261.1:c.2167C>A	XP_016877750.1:p.Pro723Thr
XM_017022262.1:c.2268+19730C>A	XP_016877751.1:n.2268+19730C>A
XM_017022263.1:c.2155C>A	XP_016877752.1:p.Pro719Thr
XM_017022264.1:c.2155C>A	XP_016877753.1:p.Pro719Thr
NM_000275.3:c.2296C>A MANE Select	NP_000266.2:p.Pro766Thr
NM_001300984.2:c.2224C>A	NP_001287913.1:p.Pro742Thr