Canonical Allele Identifier: CA711677653

Gene: OCA2

Linked Data

• dbSNP Id: rs1451763799
• gnomAD v3: 15-27925936-GCTGTCAGAAA-G
• gnomAD v4: 15-27925936-GCTGTCAGAAA-G
• MyVariant Identifiers: chr15:g.27925937_27925946del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27925937_27925946del , CM000677.2:g.27925937_27925946del	GRCh38
NC_000015.9:g.28171083_28171092del , CM000677.1:g.28171083_28171092del	GRCh37
NC_000015.8:g.25844678_25844687del	NCBI36
NG_009846.1:g.178367_178376del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.2079+181_2079+190del MANE Select	ENSP00000346659.3:n.2079+181_2079+190del
ENST00000353809.9:c.2007+181_2007+190del	ENSP00000261276.8:n.2007+181_2007+190del
ENST00000354638.7:c.2079+181_2079+190del	ENSP00000346659.3:n.2079+181_2079+190del
NM_000275.2:c.2079+181_2079+190del	NP_000266.2:n.2079+181_2079+190del
NM_001300984.1:c.2007+181_2007+190del	NP_001287913.1:n.2007+181_2007+190del
XM_011521639.1:c.2103+181_2103+190del	XP_011519941.1:n.2103+181_2103+190del
XM_011521640.1:c.2079+181_2079+190del	XP_011519942.1:n.2079+181_2079+190del
XM_011521641.1:c.2103+181_2103+190del	XP_011519943.1:n.2103+181_2103+190del
XM_011521642.1:c.2031+181_2031+190del	XP_011519944.1:n.2031+181_2031+190del
XM_011521643.1:c.2031+181_2031+190del	XP_011519945.1:n.2031+181_2031+190del
XM_011521644.1:c.1965+181_1965+190del	XP_011519946.1:n.1965+181_1965+190del
XM_011521645.1:c.2103+181_2103+190del	XP_011519947.1:n.2103+181_2103+190del
XM_011521640.2:c.2079+181_2079+190del	XP_011519942.1:n.2079+181_2079+190del
XM_017022255.1:c.2103+181_2103+190del	XP_016877744.1:n.2103+181_2103+190del
XM_017022256.1:c.2103+181_2103+190del	XP_016877745.1:n.2103+181_2103+190del
XM_017022257.1:c.2031+181_2031+190del	XP_016877746.1:n.2031+181_2031+190del
XM_017022258.1:c.2103+181_2103+190del	XP_016877747.1:n.2103+181_2103+190del
XM_017022259.1:c.2031+181_2031+190del	XP_016877748.1:n.2031+181_2031+190del
XM_017022260.1:c.1965+181_1965+190del	XP_016877749.1:n.1965+181_1965+190del
XM_017022261.1:c.1908+181_1908+190del	XP_016877750.1:n.1908+181_1908+190del
XM_017022262.1:c.2103+181_2103+190del	XP_016877751.1:n.2103+181_2103+190del
XM_017022263.1:c.2103+181_2103+190del	XP_016877752.1:n.2103+181_2103+190del
XM_017022264.1:c.2103+181_2103+190del	XP_016877753.1:n.2103+181_2103+190del
NM_000275.3:c.2079+181_2079+190del MANE Select	NP_000266.2:n.2079+181_2079+190del
NM_001300984.2:c.2007+181_2007+190del	NP_001287913.1:n.2007+181_2007+190del