Canonical Allele Identifier: CA2695219757

Gene: OCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926211_27926212del , CM000677.2:g.27926211_27926212del	GRCh38
NC_000015.9:g.28171357_28171358del , CM000677.1:g.28171357_28171358del	GRCh37
NC_000015.8:g.25844952_25844953del	NCBI36
NG_009846.1:g.178101_178102del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1994_1995del MANE Select	ENSP00000346659.3:p.Ala665GlyfsTer4
ENST00000353809.9:c.1922_1923del	ENSP00000261276.8:p.Ala641GlyfsTer4
ENST00000354638.7:c.1994_1995del	ENSP00000346659.3:p.Ala665GlyfsTer4
NM_000275.2:c.1994_1995del	NP_000266.2:p.Ala665GlyfsTer4
NM_001300984.1:c.1922_1923del	NP_001287913.1:p.Ala641GlyfsTer4
XM_011521639.1:c.2018_2019del	XP_011519941.1:p.Ala673GlyfsTer4
XM_011521640.1:c.1994_1995del	XP_011519942.1:p.Ala665GlyfsTer4
XM_011521641.1:c.2018_2019del	XP_011519943.1:p.Ala673GlyfsTer4
XM_011521642.1:c.1946_1947del	XP_011519944.1:p.Ala649GlyfsTer4
XM_011521643.1:c.1946_1947del	XP_011519945.1:p.Ala649GlyfsTer4
XM_011521644.1:c.1880_1881del	XP_011519946.1:p.Ala627GlyfsTer4
XM_011521645.1:c.2018_2019del	XP_011519947.1:p.Ala673GlyfsTer4
XM_011521640.2:c.1994_1995del	XP_011519942.1:p.Ala665GlyfsTer4
XM_017022255.1:c.2018_2019del	XP_016877744.1:p.Ala673GlyfsTer4
XM_017022256.1:c.2018_2019del	XP_016877745.1:p.Ala673GlyfsTer4
XM_017022257.1:c.1946_1947del	XP_016877746.1:p.Ala649GlyfsTer4
XM_017022258.1:c.2018_2019del	XP_016877747.1:p.Ala673GlyfsTer4
XM_017022259.1:c.1946_1947del	XP_016877748.1:p.Ala649GlyfsTer4
XM_017022260.1:c.1880_1881del	XP_016877749.1:p.Ala627GlyfsTer4
XM_017022261.1:c.1823_1824del	XP_016877750.1:p.Ala608GlyfsTer4
XM_017022262.1:c.2018_2019del	XP_016877751.1:p.Ala673GlyfsTer4
XM_017022263.1:c.2018_2019del	XP_016877752.1:p.Ala673GlyfsTer4
XM_017022264.1:c.2018_2019del	XP_016877753.1:p.Ala673GlyfsTer4
NM_000275.3:c.1994_1995del MANE Select	NP_000266.2:p.Ala665GlyfsTer4
NM_001300984.2:c.1922_1923del	NP_001287913.1:p.Ala641GlyfsTer4