Canonical Allele Identifier: CA7438649

Gene: OCA2

Linked Data

• ClinVar Variation Id: 1380592
• ClinVar RCV Id: RCV001886402
• dbSNP Id: rs563235254
• ExAC: 15:28096569 G / A
• gnomAD v2: 15-28096569-G-A
• gnomAD v3: 15-27851423-G-A
• gnomAD v4: 15-27851423-G-A
• MyVariant Identifiers: chr15:g.28096569G>A (hg19) ; chr15:g.27851423G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851423G>A , CM000677.2:g.27851423G>A	GRCh38
NC_000015.9:g.28096569G>A , CM000677.1:g.28096569G>A	GRCh37
NC_000015.8:g.25770164G>A	NCBI36
NG_009846.1:g.252890C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2297C>T MANE Select	ENSP00000346659.3:p.Pro766Leu
ENST00000353809.9:c.2225C>T	ENSP00000261276.8:p.Pro742Leu
ENST00000354638.7:c.2297C>T	ENSP00000346659.3:p.Pro766Leu
NM_000275.2:c.2297C>T	NP_000266.2:p.Pro766Leu
NM_001300984.1:c.2225C>T	NP_001287913.1:p.Pro742Leu
XM_011521639.1:c.2363C>T	XP_011519941.1:p.Pro788Leu
XM_011521640.1:c.2339C>T	XP_011519942.1:p.Pro780Leu
XM_011521641.1:c.2321C>T	XP_011519943.1:p.Pro774Leu
XM_011521642.1:c.2291C>T	XP_011519944.1:p.Pro764Leu
XM_011521643.1:c.2249C>T	XP_011519945.1:p.Pro750Leu
XM_011521644.1:c.2225C>T	XP_011519946.1:p.Pro742Leu
XM_011521645.1:c.2156C>T	XP_011519947.1:p.Pro719Leu
XM_011521640.2:c.2339C>T	XP_011519942.1:p.Pro780Leu
XM_017022255.1:c.2363C>T	XP_016877744.1:p.Pro788Leu
XM_017022256.1:c.2321C>T	XP_016877745.1:p.Pro774Leu
XM_017022257.1:c.2291C>T	XP_016877746.1:p.Pro764Leu
XM_017022258.1:c.2321C>T	XP_016877747.1:p.Pro774Leu
XM_017022259.1:c.2249C>T	XP_016877748.1:p.Pro750Leu
XM_017022260.1:c.2225C>T	XP_016877749.1:p.Pro742Leu
XM_017022261.1:c.2168C>T	XP_016877750.1:p.Pro723Leu
XM_017022262.1:c.2268+19731C>T	XP_016877751.1:n.2268+19731C>T
XM_017022263.1:c.2156C>T	XP_016877752.1:p.Pro719Leu
XM_017022264.1:c.2156C>T	XP_016877753.1:p.Pro719Leu
NM_000275.3:c.2297C>T MANE Select	NP_000266.2:p.Pro766Leu
NM_001300984.2:c.2225C>T	NP_001287913.1:p.Pro742Leu