Canonical Allele Identifier: CA391361163

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2434482
• ClinVar RCV Id: RCV003133099
• MyVariant Identifiers: chr15:g.28171334A>T (hg19) ; chr15:g.27926188A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926188A>T , CM000677.2:g.27926188A>T	GRCh38
NC_000015.9:g.28171334A>T , CM000677.1:g.28171334A>T	GRCh37
NC_000015.8:g.25844929A>T	NCBI36
NG_009846.1:g.178125T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2018T>A MANE Select	ENSP00000346659.3:p.Ile673Asn
ENST00000353809.9:c.1946T>A	ENSP00000261276.8:p.Ile649Asn
ENST00000354638.7:c.2018T>A	ENSP00000346659.3:p.Ile673Asn
NM_000275.2:c.2018T>A	NP_000266.2:p.Ile673Asn
NM_001300984.1:c.1946T>A	NP_001287913.1:p.Ile649Asn
XM_011521639.1:c.2042T>A	XP_011519941.1:p.Ile681Asn
XM_011521640.1:c.2018T>A	XP_011519942.1:p.Ile673Asn
XM_011521641.1:c.2042T>A	XP_011519943.1:p.Ile681Asn
XM_011521642.1:c.1970T>A	XP_011519944.1:p.Ile657Asn
XM_011521643.1:c.1970T>A	XP_011519945.1:p.Ile657Asn
XM_011521644.1:c.1904T>A	XP_011519946.1:p.Ile635Asn
XM_011521645.1:c.2042T>A	XP_011519947.1:p.Ile681Asn
XM_011521640.2:c.2018T>A	XP_011519942.1:p.Ile673Asn
XM_017022255.1:c.2042T>A	XP_016877744.1:p.Ile681Asn
XM_017022256.1:c.2042T>A	XP_016877745.1:p.Ile681Asn
XM_017022257.1:c.1970T>A	XP_016877746.1:p.Ile657Asn
XM_017022258.1:c.2042T>A	XP_016877747.1:p.Ile681Asn
XM_017022259.1:c.1970T>A	XP_016877748.1:p.Ile657Asn
XM_017022260.1:c.1904T>A	XP_016877749.1:p.Ile635Asn
XM_017022261.1:c.1847T>A	XP_016877750.1:p.Ile616Asn
XM_017022262.1:c.2042T>A	XP_016877751.1:p.Ile681Asn
XM_017022263.1:c.2042T>A	XP_016877752.1:p.Ile681Asn
XM_017022264.1:c.2042T>A	XP_016877753.1:p.Ile681Asn
NM_000275.3:c.2018T>A MANE Select	NP_000266.2:p.Ile673Asn
NM_001300984.2:c.1946T>A	NP_001287913.1:p.Ile649Asn