Canonical Allele Identifier: CA2627378294

Gene: OCA2

Linked Data

• gnomAD v4: 15-27851451-GGCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851453_27851457del , CM000677.2:g.27851453_27851457del	GRCh38
NC_000015.9:g.28096599_28096603del , CM000677.1:g.28096599_28096603del	GRCh37
NC_000015.8:g.25770194_25770198del	NCBI36
NG_009846.1:g.252857_252861del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2264_2268del MANE Select	ENSP00000346659.3:p.Leu755ProfsTer4
ENST00000353809.9:c.2192_2196del	ENSP00000261276.8:p.Leu731ProfsTer4
ENST00000354638.7:c.2264_2268del	ENSP00000346659.3:p.Leu755ProfsTer4
NM_000275.2:c.2264_2268del	NP_000266.2:p.Leu755ProfsTer4
NM_001300984.1:c.2192_2196del	NP_001287913.1:p.Leu731ProfsTer4
XM_011521639.1:c.2330_2334del	XP_011519941.1:p.Leu777ProfsTer4
XM_011521640.1:c.2306_2310del	XP_011519942.1:p.Leu769ProfsTer4
XM_011521641.1:c.2288_2292del	XP_011519943.1:p.Leu763ProfsTer4
XM_011521642.1:c.2258_2262del	XP_011519944.1:p.Leu753ProfsTer4
XM_011521643.1:c.2216_2220del	XP_011519945.1:p.Leu739ProfsTer4
XM_011521644.1:c.2192_2196del	XP_011519946.1:p.Leu731ProfsTer4
XM_011521645.1:c.2123_2127del	XP_011519947.1:p.Leu708ProfsTer4
XM_011521640.2:c.2306_2310del	XP_011519942.1:p.Leu769ProfsTer4
XM_017022255.1:c.2330_2334del	XP_016877744.1:p.Leu777ProfsTer4
XM_017022256.1:c.2288_2292del	XP_016877745.1:p.Leu763ProfsTer4
XM_017022257.1:c.2258_2262del	XP_016877746.1:p.Leu753ProfsTer4
XM_017022258.1:c.2288_2292del	XP_016877747.1:p.Leu763ProfsTer4
XM_017022259.1:c.2216_2220del	XP_016877748.1:p.Leu739ProfsTer4
XM_017022260.1:c.2192_2196del	XP_016877749.1:p.Leu731ProfsTer4
XM_017022261.1:c.2135_2139del	XP_016877750.1:p.Leu712ProfsTer4
XM_017022262.1:c.2268+19698_2268+19702del	XP_016877751.1:n.2268+19698_2268+19702del
XM_017022263.1:c.2123_2127del	XP_016877752.1:p.Leu708ProfsTer4
XM_017022264.1:c.2123_2127del	XP_016877753.1:p.Leu708ProfsTer4
NM_000275.3:c.2264_2268del MANE Select	NP_000266.2:p.Leu755ProfsTer4
NM_001300984.2:c.2192_2196del	NP_001287913.1:p.Leu731ProfsTer4