Canonical Allele Identifier: CA616702380

Gene: OCA2

Linked Data

• dbSNP Id: rs1162538246
• gnomAD v2: 15-28096682-G-A
• gnomAD v3: 15-27851536-G-A
• gnomAD v4: 15-27851536-G-A
• MyVariant Identifiers: chr15:g.28096682G>A (hg19) ; chr15:g.27851536G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851536G>A , CM000677.2:g.27851536G>A	GRCh38
NC_000015.9:g.28096682G>A , CM000677.1:g.28096682G>A	GRCh37
NC_000015.8:g.25770277G>A	NCBI36
NG_009846.1:g.252777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2245-61C>T MANE Select	ENSP00000346659.3:n.2245-61C>T
ENST00000353809.9:c.2173-61C>T	ENSP00000261276.8:n.2173-61C>T
ENST00000354638.7:c.2245-61C>T	ENSP00000346659.3:n.2245-61C>T
NM_000275.2:c.2245-61C>T	NP_000266.2:n.2245-61C>T
NM_001300984.1:c.2173-61C>T	NP_001287913.1:n.2173-61C>T
XM_011521639.1:c.2311-61C>T	XP_011519941.1:n.2311-61C>T
XM_011521640.1:c.2287-61C>T	XP_011519942.1:n.2287-61C>T
XM_011521641.1:c.2269-61C>T	XP_011519943.1:n.2269-61C>T
XM_011521642.1:c.2239-61C>T	XP_011519944.1:n.2239-61C>T
XM_011521643.1:c.2197-61C>T	XP_011519945.1:n.2197-61C>T
XM_011521644.1:c.2173-61C>T	XP_011519946.1:n.2173-61C>T
XM_011521645.1:c.2104-61C>T	XP_011519947.1:n.2104-61C>T
XM_011521640.2:c.2287-61C>T	XP_011519942.1:n.2287-61C>T
XM_017022255.1:c.2311-61C>T	XP_016877744.1:n.2311-61C>T
XM_017022256.1:c.2269-61C>T	XP_016877745.1:n.2269-61C>T
XM_017022257.1:c.2239-61C>T	XP_016877746.1:n.2239-61C>T
XM_017022258.1:c.2269-61C>T	XP_016877747.1:n.2269-61C>T
XM_017022259.1:c.2197-61C>T	XP_016877748.1:n.2197-61C>T
XM_017022260.1:c.2173-61C>T	XP_016877749.1:n.2173-61C>T
XM_017022261.1:c.2116-61C>T	XP_016877750.1:n.2116-61C>T
XM_017022262.1:c.2268+19618C>T	XP_016877751.1:n.2268+19618C>T
XM_017022263.1:c.2104-61C>T	XP_016877752.1:n.2104-61C>T
XM_017022264.1:c.2104-61C>T	XP_016877753.1:n.2104-61C>T
NM_000275.3:c.2245-61C>T MANE Select	NP_000266.2:n.2245-61C>T
NM_001300984.2:c.2173-61C>T	NP_001287913.1:n.2173-61C>T