Canonical Allele Identifier: CA391360231

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28096608A>G (hg19) ; chr15:g.27851462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27851462A>G , CM000677.2:g.27851462A>G	GRCh38
NC_000015.9:g.28096608A>G , CM000677.1:g.28096608A>G	GRCh37
NC_000015.8:g.25770203A>G	NCBI36
NG_009846.1:g.252851T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2258T>C MANE Select	ENSP00000346659.3:p.Leu753Pro
ENST00000353809.9:c.2186T>C	ENSP00000261276.8:p.Leu729Pro
ENST00000354638.7:c.2258T>C	ENSP00000346659.3:p.Leu753Pro
NM_000275.2:c.2258T>C	NP_000266.2:p.Leu753Pro
NM_001300984.1:c.2186T>C	NP_001287913.1:p.Leu729Pro
XM_011521639.1:c.2324T>C	XP_011519941.1:p.Leu775Pro
XM_011521640.1:c.2300T>C	XP_011519942.1:p.Leu767Pro
XM_011521641.1:c.2282T>C	XP_011519943.1:p.Leu761Pro
XM_011521642.1:c.2252T>C	XP_011519944.1:p.Leu751Pro
XM_011521643.1:c.2210T>C	XP_011519945.1:p.Leu737Pro
XM_011521644.1:c.2186T>C	XP_011519946.1:p.Leu729Pro
XM_011521645.1:c.2117T>C	XP_011519947.1:p.Leu706Pro
XM_011521640.2:c.2300T>C	XP_011519942.1:p.Leu767Pro
XM_017022255.1:c.2324T>C	XP_016877744.1:p.Leu775Pro
XM_017022256.1:c.2282T>C	XP_016877745.1:p.Leu761Pro
XM_017022257.1:c.2252T>C	XP_016877746.1:p.Leu751Pro
XM_017022258.1:c.2282T>C	XP_016877747.1:p.Leu761Pro
XM_017022259.1:c.2210T>C	XP_016877748.1:p.Leu737Pro
XM_017022260.1:c.2186T>C	XP_016877749.1:p.Leu729Pro
XM_017022261.1:c.2129T>C	XP_016877750.1:p.Leu710Pro
XM_017022262.1:c.2268+19692T>C	XP_016877751.1:n.2268+19692T>C
XM_017022263.1:c.2117T>C	XP_016877752.1:p.Leu706Pro
XM_017022264.1:c.2117T>C	XP_016877753.1:p.Leu706Pro
NM_000275.3:c.2258T>C MANE Select	NP_000266.2:p.Leu753Pro
NM_001300984.2:c.2186T>C	NP_001287913.1:p.Leu729Pro