Canonical Allele Identifier: CA2627379624

Gene: OCA2

Linked Data

• gnomAD v4: 15-27926144-G-GCGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926145_27926148dup , CM000677.2:g.27926145_27926148dup	GRCh38
NC_000015.9:g.28171291_28171294dup , CM000677.1:g.28171291_28171294dup	GRCh37
NC_000015.8:g.25844886_25844889dup	NCBI36
NG_009846.1:g.178165_178168dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2058_2061dup MANE Select	ENSP00000346659.3:p.Leu688SerfsTer?
ENST00000353809.9:c.1986_1989dup	ENSP00000261276.8:p.Leu664SerfsTer?
ENST00000354638.7:c.2058_2061dup	ENSP00000346659.3:p.Leu688SerfsTer?
NM_000275.2:c.2058_2061dup	NP_000266.2:p.Leu688SerfsTer?
NM_001300984.1:c.1986_1989dup	NP_001287913.1:p.Leu664SerfsTer?
XM_011521639.1:c.2082_2085dup	XP_011519941.1:p.Leu696SerfsTer?
XM_011521640.1:c.2058_2061dup	XP_011519942.1:p.Leu688SerfsTer?
XM_011521641.1:c.2082_2085dup	XP_011519943.1:p.Leu696SerfsTer?
XM_011521642.1:c.2010_2013dup	XP_011519944.1:p.Leu672SerfsTer?
XM_011521643.1:c.2010_2013dup	XP_011519945.1:p.Leu672SerfsTer?
XM_011521644.1:c.1944_1947dup	XP_011519946.1:p.Leu650SerfsTer?
XM_011521645.1:c.2082_2085dup	XP_011519947.1:p.Leu696SerfsTer19
XM_011521640.2:c.2058_2061dup	XP_011519942.1:p.Leu688SerfsTer?
XM_017022255.1:c.2082_2085dup	XP_016877744.1:p.Leu696SerfsTer?
XM_017022256.1:c.2082_2085dup	XP_016877745.1:p.Leu696SerfsTer?
XM_017022257.1:c.2010_2013dup	XP_016877746.1:p.Leu672SerfsTer?
XM_017022258.1:c.2082_2085dup	XP_016877747.1:p.Leu696SerfsTer?
XM_017022259.1:c.2010_2013dup	XP_016877748.1:p.Leu672SerfsTer?
XM_017022260.1:c.1944_1947dup	XP_016877749.1:p.Leu650SerfsTer?
XM_017022261.1:c.1887_1890dup	XP_016877750.1:p.Leu631SerfsTer?
XM_017022262.1:c.2082_2085dup	XP_016877751.1:p.Leu696SerfsTer?
XM_017022263.1:c.2082_2085dup	XP_016877752.1:p.Leu696SerfsTer19
XM_017022264.1:c.2082_2085dup	XP_016877753.1:p.Leu696SerfsTer19
NM_000275.3:c.2058_2061dup MANE Select	NP_000266.2:p.Leu688SerfsTer?
NM_001300984.2:c.1986_1989dup	NP_001287913.1:p.Leu664SerfsTer?