Canonical Allele Identifier: CA7438787

Gene: OCA2

Linked Data

• ClinVar Variation Id: 2995425
• ClinVar RCV Id: RCV003851032
• dbSNP Id: rs760854665
• ExAC: 15:28171302 A / AG
• gnomAD v2: 15-28171302-A-AG
• gnomAD v3: 15-27926156-A-AG
• gnomAD v4: 15-27926156-A-AG
• MyVariant Identifiers: chr15:g.28171302_28171303insG (hg19) ; chr15:g.27926156_27926157insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.27926156_27926157insG , CM000677.2:g.27926156_27926157insG	GRCh38
NC_000015.9:g.28171302_28171303insG , CM000677.1:g.28171302_28171303insG	GRCh37
NC_000015.8:g.25844897_25844898insG	NCBI36
NG_009846.1:g.178156_178157insC

Transcript Alleles

HGVS	Amino-acid change
ENST00000354638.8:c.2049_2050insC MANE Select	ENSP00000346659.3:p.Phe684LeufsTer?
ENST00000353809.9:c.1977_1978insC	ENSP00000261276.8:p.Phe660LeufsTer?
ENST00000354638.7:c.2049_2050insC	ENSP00000346659.3:p.Phe684LeufsTer?
NM_000275.2:c.2049_2050insC	NP_000266.2:p.Phe684LeufsTer?
NM_001300984.1:c.1977_1978insC	NP_001287913.1:p.Phe660LeufsTer?
XM_011521639.1:c.2073_2074insC	XP_011519941.1:p.Phe692LeufsTer?
XM_011521640.1:c.2049_2050insC	XP_011519942.1:p.Phe684LeufsTer?
XM_011521641.1:c.2073_2074insC	XP_011519943.1:p.Phe692LeufsTer?
XM_011521642.1:c.2001_2002insC	XP_011519944.1:p.Phe668LeufsTer?
XM_011521643.1:c.2001_2002insC	XP_011519945.1:p.Phe668LeufsTer?
XM_011521644.1:c.1935_1936insC	XP_011519946.1:p.Phe646LeufsTer?
XM_011521645.1:c.2073_2074insC	XP_011519947.1:p.Phe692LeufsTer22
XM_011521640.2:c.2049_2050insC	XP_011519942.1:p.Phe684LeufsTer?
XM_017022255.1:c.2073_2074insC	XP_016877744.1:p.Phe692LeufsTer?
XM_017022256.1:c.2073_2074insC	XP_016877745.1:p.Phe692LeufsTer?
XM_017022257.1:c.2001_2002insC	XP_016877746.1:p.Phe668LeufsTer?
XM_017022258.1:c.2073_2074insC	XP_016877747.1:p.Phe692LeufsTer?
XM_017022259.1:c.2001_2002insC	XP_016877748.1:p.Phe668LeufsTer?
XM_017022260.1:c.1935_1936insC	XP_016877749.1:p.Phe646LeufsTer?
XM_017022261.1:c.1878_1879insC	XP_016877750.1:p.Phe627LeufsTer?
XM_017022262.1:c.2073_2074insC	XP_016877751.1:p.Phe692LeufsTer?
XM_017022263.1:c.2073_2074insC	XP_016877752.1:p.Phe692LeufsTer22
XM_017022264.1:c.2073_2074insC	XP_016877753.1:p.Phe692LeufsTer22
NM_000275.3:c.2049_2050insC MANE Select	NP_000266.2:p.Phe684LeufsTer?
NM_001300984.2:c.1977_1978insC	NP_001287913.1:p.Phe660LeufsTer?