Canonical Allele Identifier: CA616706640

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2101576
• ClinVar RCV Id: RCV003016979
• dbSNP Id: rs1263195991
• gnomAD v2: 15-28235734-A-AGCCAGTGCT
• gnomAD v4: 15-27990588-A-AGCCAGTGCT
• MyVariant Identifiers: chr15:g.28235734_28235735insGCCAGTGCT (hg19) ; chr15:g.27990588_27990589insGCCAGTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27990600_27990608dup , CM000677.2:g.27990600_27990608dup	GRCh38
NC_000015.9:g.28235746_28235754dup , CM000677.1:g.28235746_28235754dup	GRCh37
NC_000015.8:g.25909341_25909349dup	NCBI36
NG_009846.1:g.113716_113724dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.1095_1103dup MANE Select	ENSP00000346659.3:p.Ala368_Val369insAlaLe...
ENST00000353809.9:c.1045-931_1045-923dup	ENSP00000261276.8:n.1045-931_1045-923dup
ENST00000354638.7:c.1095_1103dup	ENSP00000346659.3:p.Ala368_Val369insAlaLe...
NM_000275.2:c.1095_1103dup	NP_000266.2:p.Ala368_Val369insAlaLeuAla
NM_001300984.1:c.1045-931_1045-923dup	NP_001287913.1:n.1045-931_1045-923dup
XM_011521639.1:c.1119_1127dup	XP_011519941.1:p.Ala376_Val377insAlaLeuAl...
XM_011521640.1:c.1095_1103dup	XP_011519942.1:p.Ala368_Val369insAlaLeuAl...
XM_011521641.1:c.1119_1127dup	XP_011519943.1:p.Ala376_Val377insAlaLeuAl...
XM_011521642.1:c.1069-931_1069-923dup	XP_011519944.1:n.1069-931_1069-923dup
XM_011521643.1:c.1069-931_1069-923dup	XP_011519945.1:n.1069-931_1069-923dup
XM_011521644.1:c.1069-3954_1069-3946dup	XP_011519946.1:n.1069-3954_1069-3946dup
XM_011521645.1:c.1119_1127dup	XP_011519947.1:p.Ala376_Val377insAlaLeuAl...
XM_011521646.1:c.1119_1127dup	XP_011519948.1:p.Ala376_Val377insAlaLeuAl...
XM_011521647.1:c.1119_1127dup	XP_011519949.1:p.Ala376_Val377insAlaLeuAl...
XR_931843.1:n.2480_2488dup
XM_011521640.2:c.1095_1103dup	XP_011519942.1:p.Ala368_Val369insAlaLeuAl...
XM_017022255.1:c.1119_1127dup	XP_016877744.1:p.Ala376_Val377insAlaLeuAl...
XM_017022256.1:c.1119_1127dup	XP_016877745.1:p.Ala376_Val377insAlaLeuAl...
XM_017022257.1:c.1069-931_1069-923dup	XP_016877746.1:n.1069-931_1069-923dup
XM_017022258.1:c.1119_1127dup	XP_016877747.1:p.Ala376_Val377insAlaLeuAl...
XM_017022259.1:c.1069-931_1069-923dup	XP_016877748.1:n.1069-931_1069-923dup
XM_017022260.1:c.1069-3954_1069-3946dup	XP_016877749.1:n.1069-3954_1069-3946dup
XM_017022261.1:c.924_932dup	XP_016877750.1:p.Ala311_Val312insAlaLeuAl...
XM_017022262.1:c.1119_1127dup	XP_016877751.1:p.Ala376_Val377insAlaLeuAl...
XM_017022263.1:c.1119_1127dup	XP_016877752.1:p.Ala376_Val377insAlaLeuAl...
XM_017022264.1:c.1119_1127dup	XP_016877753.1:p.Ala376_Val377insAlaLeuAl...
XM_017022265.1:c.1119_1127dup	XP_016877754.1:p.Ala376_Val377insAlaLeuAl...
XR_001751294.1:n.1208_1216dup
NM_000275.3:c.1095_1103dup MANE Select	NP_000266.2:p.Ala368_Val369insAlaLeuAla
NM_001300984.2:c.1045-931_1045-923dup	NP_001287913.1:n.1045-931_1045-923dup