Canonical Allele Identifier: CA7438643

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2769450
• ClinVar RCV Id: RCV003578747
• dbSNP Id: rs755111887
• ExAC: 15:28096556 A / G
• gnomAD v2: 15-28096556-A-G
• gnomAD v4: 15-27851410-A-G
• MyVariant Identifiers: chr15:g.28096556A>G (hg19) ; chr15:g.27851410A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851410A>G , CM000677.2:g.27851410A>G	GRCh38
NC_000015.9:g.28096556A>G , CM000677.1:g.28096556A>G	GRCh37
NC_000015.8:g.25770151A>G	NCBI36
NG_009846.1:g.252903T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2310T>C MANE Select	ENSP00000346659.3:p.Tyr770=
ENST00000353809.9:c.2238T>C	ENSP00000261276.8:p.Tyr746=
ENST00000354638.7:c.2310T>C	ENSP00000346659.3:p.Tyr770=
NM_000275.2:c.2310T>C	NP_000266.2:p.Tyr770=
NM_001300984.1:c.2238T>C	NP_001287913.1:p.Tyr746=
XM_011521639.1:c.2376T>C	XP_011519941.1:p.Tyr792=
XM_011521640.1:c.2352T>C	XP_011519942.1:p.Tyr784=
XM_011521641.1:c.2334T>C	XP_011519943.1:p.Tyr778=
XM_011521642.1:c.2304T>C	XP_011519944.1:p.Tyr768=
XM_011521643.1:c.2262T>C	XP_011519945.1:p.Tyr754=
XM_011521644.1:c.2238T>C	XP_011519946.1:p.Tyr746=
XM_011521645.1:c.2169T>C	XP_011519947.1:p.Tyr723=
XM_011521640.2:c.2352T>C	XP_011519942.1:p.Tyr784=
XM_017022255.1:c.2376T>C	XP_016877744.1:p.Tyr792=
XM_017022256.1:c.2334T>C	XP_016877745.1:p.Tyr778=
XM_017022257.1:c.2304T>C	XP_016877746.1:p.Tyr768=
XM_017022258.1:c.2334T>C	XP_016877747.1:p.Tyr778=
XM_017022259.1:c.2262T>C	XP_016877748.1:p.Tyr754=
XM_017022260.1:c.2238T>C	XP_016877749.1:p.Tyr746=
XM_017022261.1:c.2181T>C	XP_016877750.1:p.Tyr727=
XM_017022262.1:c.2268+19744T>C	XP_016877751.1:n.2268+19744T>C
XM_017022263.1:c.2169T>C	XP_016877752.1:p.Tyr723=
XM_017022264.1:c.2169T>C	XP_016877753.1:p.Tyr723=
NM_000275.3:c.2310T>C MANE Select	NP_000266.2:p.Tyr770=
NM_001300984.2:c.2238T>C	NP_001287913.1:p.Tyr746=