Canonical Allele Identifier: CA391359692

Gene: OCA2

Linked Data

• MyVariant Identifiers: chr15:g.28228597T>A (hg19) ; chr15:g.27983451T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983451T>A , CM000677.2:g.27983451T>A	GRCh38
NC_000015.9:g.28228597T>A , CM000677.1:g.28228597T>A	GRCh37
NC_000015.8:g.25902192T>A	NCBI36
NG_009846.1:g.120862A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1397A>T MANE Select	ENSP00000346659.3:p.Gln466Leu
ENST00000353809.9:c.1325A>T	ENSP00000261276.8:p.Gln442Leu
ENST00000354638.7:c.1397A>T	ENSP00000346659.3:p.Gln466Leu
NM_000275.2:c.1397A>T	NP_000266.2:p.Gln466Leu
NM_001300984.1:c.1325A>T	NP_001287913.1:p.Gln442Leu
XM_011521639.1:c.1421A>T	XP_011519941.1:p.Gln474Leu
XM_011521640.1:c.1397A>T	XP_011519942.1:p.Gln466Leu
XM_011521641.1:c.1421A>T	XP_011519943.1:p.Gln474Leu
XM_011521642.1:c.1349A>T	XP_011519944.1:p.Gln450Leu
XM_011521643.1:c.1349A>T	XP_011519945.1:p.Gln450Leu
XM_011521644.1:c.1283A>T	XP_011519946.1:p.Gln428Leu
XM_011521645.1:c.1421A>T	XP_011519947.1:p.Gln474Leu
XM_011521646.1:c.1421A>T	XP_011519948.1:p.Gln474Leu
XM_011521647.1:c.1421A>T	XP_011519949.1:p.Gln474Leu
XR_931843.1:n.2782A>T
XM_011521640.2:c.1397A>T	XP_011519942.1:p.Gln466Leu
XM_017022255.1:c.1421A>T	XP_016877744.1:p.Gln474Leu
XM_017022256.1:c.1421A>T	XP_016877745.1:p.Gln474Leu
XM_017022257.1:c.1349A>T	XP_016877746.1:p.Gln450Leu
XM_017022258.1:c.1421A>T	XP_016877747.1:p.Gln474Leu
XM_017022259.1:c.1349A>T	XP_016877748.1:p.Gln450Leu
XM_017022260.1:c.1283A>T	XP_016877749.1:p.Gln428Leu
XM_017022261.1:c.1226A>T	XP_016877750.1:p.Gln409Leu
XM_017022262.1:c.1421A>T	XP_016877751.1:p.Gln474Leu
XM_017022263.1:c.1421A>T	XP_016877752.1:p.Gln474Leu
XM_017022264.1:c.1421A>T	XP_016877753.1:p.Gln474Leu
XM_017022265.1:c.1421A>T	XP_016877754.1:p.Gln474Leu
XR_001751294.1:n.1510A>T
NM_000275.3:c.1397A>T MANE Select	NP_000266.2:p.Gln466Leu
NM_001300984.2:c.1325A>T	NP_001287913.1:p.Gln442Leu