Canonical Allele Identifier: CA391359745

Gene: OCA2

Linked Data

• dbSNP Id: rs1463949850
• gnomAD v4: 15-27983461-C-T
• MyVariant Identifiers: chr15:g.28228607C>T (hg19) ; chr15:g.27983461C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27983461C>T , CM000677.2:g.27983461C>T	GRCh38
NC_000015.9:g.28228607C>T , CM000677.1:g.28228607C>T	GRCh37
NC_000015.8:g.25902202C>T	NCBI36
NG_009846.1:g.120852G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1387G>A MANE Select	ENSP00000346659.3:p.Asp463Asn
ENST00000353809.9:c.1315G>A	ENSP00000261276.8:p.Asp439Asn
ENST00000354638.7:c.1387G>A	ENSP00000346659.3:p.Asp463Asn
NM_000275.2:c.1387G>A	NP_000266.2:p.Asp463Asn
NM_001300984.1:c.1315G>A	NP_001287913.1:p.Asp439Asn
XM_011521639.1:c.1411G>A	XP_011519941.1:p.Asp471Asn
XM_011521640.1:c.1387G>A	XP_011519942.1:p.Asp463Asn
XM_011521641.1:c.1411G>A	XP_011519943.1:p.Asp471Asn
XM_011521642.1:c.1339G>A	XP_011519944.1:p.Asp447Asn
XM_011521643.1:c.1339G>A	XP_011519945.1:p.Asp447Asn
XM_011521644.1:c.1273G>A	XP_011519946.1:p.Asp425Asn
XM_011521645.1:c.1411G>A	XP_011519947.1:p.Asp471Asn
XM_011521646.1:c.1411G>A	XP_011519948.1:p.Asp471Asn
XM_011521647.1:c.1411G>A	XP_011519949.1:p.Asp471Asn
XR_931843.1:n.2772G>A
XM_011521640.2:c.1387G>A	XP_011519942.1:p.Asp463Asn
XM_017022255.1:c.1411G>A	XP_016877744.1:p.Asp471Asn
XM_017022256.1:c.1411G>A	XP_016877745.1:p.Asp471Asn
XM_017022257.1:c.1339G>A	XP_016877746.1:p.Asp447Asn
XM_017022258.1:c.1411G>A	XP_016877747.1:p.Asp471Asn
XM_017022259.1:c.1339G>A	XP_016877748.1:p.Asp447Asn
XM_017022260.1:c.1273G>A	XP_016877749.1:p.Asp425Asn
XM_017022261.1:c.1216G>A	XP_016877750.1:p.Asp406Asn
XM_017022262.1:c.1411G>A	XP_016877751.1:p.Asp471Asn
XM_017022263.1:c.1411G>A	XP_016877752.1:p.Asp471Asn
XM_017022264.1:c.1411G>A	XP_016877753.1:p.Asp471Asn
XM_017022265.1:c.1411G>A	XP_016877754.1:p.Asp471Asn
XR_001751294.1:n.1500G>A
NM_000275.3:c.1387G>A MANE Select	NP_000266.2:p.Asp463Asn
NM_001300984.2:c.1315G>A	NP_001287913.1:p.Asp439Asn