Canonical Allele Identifier: CA2627379634

Gene: OCA2

Linked Data

• gnomAD v4: 15-27926206-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926207del , CM000677.2:g.27926207del	GRCh38
NC_000015.9:g.28171353del , CM000677.1:g.28171353del	GRCh37
NC_000015.8:g.25844948del	NCBI36
NG_009846.1:g.178106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354638.8:c.1999del MANE Select	ENSP00000346659.3:p.Ile667PhefsTer6
ENST00000353809.9:c.1927del	ENSP00000261276.8:p.Ile643PhefsTer6
ENST00000354638.7:c.1999del	ENSP00000346659.3:p.Ile667PhefsTer6
NM_000275.2:c.1999del	NP_000266.2:p.Ile667PhefsTer6
NM_001300984.1:c.1927del	NP_001287913.1:p.Ile643PhefsTer6
XM_011521639.1:c.2023del	XP_011519941.1:p.Ile675PhefsTer6
XM_011521640.1:c.1999del	XP_011519942.1:p.Ile667PhefsTer6
XM_011521641.1:c.2023del	XP_011519943.1:p.Ile675PhefsTer6
XM_011521642.1:c.1951del	XP_011519944.1:p.Ile651PhefsTer6
XM_011521643.1:c.1951del	XP_011519945.1:p.Ile651PhefsTer6
XM_011521644.1:c.1885del	XP_011519946.1:p.Ile629PhefsTer6
XM_011521645.1:c.2023del	XP_011519947.1:p.Ile675PhefsTer6
XM_011521640.2:c.1999del	XP_011519942.1:p.Ile667PhefsTer6
XM_017022255.1:c.2023del	XP_016877744.1:p.Ile675PhefsTer6
XM_017022256.1:c.2023del	XP_016877745.1:p.Ile675PhefsTer6
XM_017022257.1:c.1951del	XP_016877746.1:p.Ile651PhefsTer6
XM_017022258.1:c.2023del	XP_016877747.1:p.Ile675PhefsTer6
XM_017022259.1:c.1951del	XP_016877748.1:p.Ile651PhefsTer6
XM_017022260.1:c.1885del	XP_016877749.1:p.Ile629PhefsTer6
XM_017022261.1:c.1828del	XP_016877750.1:p.Ile610PhefsTer6
XM_017022262.1:c.2023del	XP_016877751.1:p.Ile675PhefsTer6
XM_017022263.1:c.2023del	XP_016877752.1:p.Ile675PhefsTer6
XM_017022264.1:c.2023del	XP_016877753.1:p.Ile675PhefsTer6
NM_000275.3:c.1999del MANE Select	NP_000266.2:p.Ile667PhefsTer6
NM_001300984.2:c.1927del	NP_001287913.1:p.Ile643PhefsTer6