Canonical Allele Identifier: CA2575652992

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27955061_27955062del , CM000677.2:g.27955061_27955062del	GRCh38
NC_000015.9:g.28200207_28200208del , CM000677.1:g.28200207_28200208del	GRCh37
NC_000015.8:g.25873802_25873803del	NCBI36
NG_009846.1:g.149254_149255del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1842+99_1842+100del MANE Select	ENSP00000346659.3:n.1842+99_1842+100del
ENST00000353809.9:c.1770+99_1770+100del	ENSP00000261276.8:n.1770+99_1770+100del
ENST00000354638.7:c.1842+99_1842+100del	ENSP00000346659.3:n.1842+99_1842+100del
NM_000275.2:c.1842+99_1842+100del	NP_000266.2:n.1842+99_1842+100del
NM_001300984.1:c.1770+99_1770+100del	NP_001287913.1:n.1770+99_1770+100del
XM_011521639.1:c.1866+99_1866+100del	XP_011519941.1:n.1866+99_1866+100del
XM_011521640.1:c.1842+99_1842+100del	XP_011519942.1:n.1842+99_1842+100del
XM_011521641.1:c.1866+99_1866+100del	XP_011519943.1:n.1866+99_1866+100del
XM_011521642.1:c.1794+99_1794+100del	XP_011519944.1:n.1794+99_1794+100del
XM_011521643.1:c.1794+99_1794+100del	XP_011519945.1:n.1794+99_1794+100del
XM_011521644.1:c.1728+99_1728+100del	XP_011519946.1:n.1728+99_1728+100del
XM_011521645.1:c.1866+99_1866+100del	XP_011519947.1:n.1866+99_1866+100del
XM_011521646.1:c.1866+99_1866+100del	XP_011519948.1:n.1866+99_1866+100del
XM_011521647.1:c.1865+100_1865+101del	XP_011519949.1:n.1865+100_1865+101del
XM_011521640.2:c.1842+99_1842+100del	XP_011519942.1:n.1842+99_1842+100del
XM_017022255.1:c.1866+99_1866+100del	XP_016877744.1:n.1866+99_1866+100del
XM_017022256.1:c.1866+99_1866+100del	XP_016877745.1:n.1866+99_1866+100del
XM_017022257.1:c.1794+99_1794+100del	XP_016877746.1:n.1794+99_1794+100del
XM_017022258.1:c.1866+99_1866+100del	XP_016877747.1:n.1866+99_1866+100del
XM_017022259.1:c.1794+99_1794+100del	XP_016877748.1:n.1794+99_1794+100del
XM_017022260.1:c.1728+99_1728+100del	XP_016877749.1:n.1728+99_1728+100del
XM_017022261.1:c.1671+99_1671+100del	XP_016877750.1:n.1671+99_1671+100del
XM_017022262.1:c.1866+99_1866+100del	XP_016877751.1:n.1866+99_1866+100del
XM_017022263.1:c.1866+99_1866+100del	XP_016877752.1:n.1866+99_1866+100del
XM_017022264.1:c.1866+99_1866+100del	XP_016877753.1:n.1866+99_1866+100del
XM_017022265.1:c.1866+99_1866+100del	XP_016877754.1:n.1866+99_1866+100del
NM_000275.3:c.1842+99_1842+100del MANE Select	NP_000266.2:n.1842+99_1842+100del
NM_001300984.2:c.1770+99_1770+100del	NP_001287913.1:n.1770+99_1770+100del