Canonical Allele Identifier: CA246554
Community Standard Title: NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)
Gene: OCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.28022554G>A , CM000677.2:g.28022554G>A GRCh38
NC_000015.9:g.28267700G>A , CM000677.1:g.28267700G>A GRCh37
NC_000015.8:g.25941295G>A NCBI36
NG_009846.1:g.81759C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000275.3:c.593C>T MANE Select NP_000266.2:p.Pro198Leu
ENST00000354638.8:c.593C>T MANE Select ENSP00000346659.3:p.Pro198Leu
NM_000275.2:c.593C>T NP_000266.2:p.Pro198Leu
NM_001300984.1:c.593C>T NP_001287913.1:p.Pro198Leu
NM_001300984.2:c.593C>T NP_001287913.1:p.Pro198Leu
ENST00000353809.9:c.593C>T ENSP00000261276.8:p.Pro198Leu
ENST00000354638.7:c.593C>T ENSP00000346659.3:p.Pro198Leu
ENST00000431101.1:c.593C>T ENSP00000415431.1:p.Pro198Leu
ENST00000445578.5:c.573+2291C>T ENSP00000414425.1:n.573+2291C>T
XM_011521639.1:c.617C>T XP_011519941.1:p.Pro206Leu
XM_011521640.1:c.593C>T XP_011519942.1:p.Pro198Leu
XM_011521640.2:c.593C>T XP_011519942.1:p.Pro198Leu
XM_011521641.1:c.617C>T XP_011519943.1:p.Pro206Leu
XM_011521642.1:c.617C>T XP_011519944.1:p.Pro206Leu
XM_011521643.1:c.617C>T XP_011519945.1:p.Pro206Leu
XM_011521644.1:c.617C>T XP_011519946.1:p.Pro206Leu
XM_011521645.1:c.617C>T XP_011519947.1:p.Pro206Leu
XM_011521646.1:c.617C>T XP_011519948.1:p.Pro206Leu
XM_011521647.1:c.617C>T XP_011519949.1:p.Pro206Leu
XM_017022255.1:c.617C>T XP_016877744.1:p.Pro206Leu
XM_017022256.1:c.617C>T XP_016877745.1:p.Pro206Leu
XM_017022257.1:c.617C>T XP_016877746.1:p.Pro206Leu
XM_017022258.1:c.617C>T XP_016877747.1:p.Pro206Leu
XM_017022259.1:c.617C>T XP_016877748.1:p.Pro206Leu
XM_017022260.1:c.617C>T XP_016877749.1:p.Pro206Leu
XM_017022261.1:c.422C>T XP_016877750.1:p.Pro141Leu
XM_017022262.1:c.617C>T XP_016877751.1:p.Pro206Leu
XM_017022263.1:c.617C>T XP_016877752.1:p.Pro206Leu
XM_017022264.1:c.617C>T XP_016877753.1:p.Pro206Leu
XM_017022265.1:c.617C>T XP_016877754.1:p.Pro206Leu
XR_001751294.1:n.706C>T
XR_931843.1:n.1978C>T