Canonical Allele Identifier: CA5232405

Gene: CRB2

Linked Data

• ClinVar Variation Id: 967245
• ClinVar RCV Id: RCV001242108 ; RCV003898239
• dbSNP Id: rs542637649
• ExAC: 9:126136084 G / A
• gnomAD v2: 9-126136084-G-A
• gnomAD v3: 9-123373805-G-A
• gnomAD v4: 9-123373805-G-A
• MyVariant Identifiers: chr9:g.126136084G>A (hg19) ; chr9:g.123373805G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123373805G>A , CM000671.2:g.123373805G>A	GRCh38
NC_000009.11:g.126136084G>A , CM000671.1:g.126136084G>A	GRCh37
NC_000009.10:g.125175905G>A	NCBI36
NG_051311.1:g.24741G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000373631.8:c.3274G>A MANE Select	ENSP00000362734.3:p.Glu1092Lys
ENST00000359999.7:c.3274G>A	ENSP00000353092.3:p.Glu1092Lys
ENST00000373631.7:c.3274G>A	ENSP00000362734.3:p.Glu1092Lys
ENST00000460253.1:c.2278G>A	ENSP00000435279.1:p.Glu760Lys
NM_173689.6:c.3274G>A	NP_775960.4:p.Glu1092Lys
NR_104603.1:n.2388G>A
XM_005251934.1:c.2278G>A	XP_005251991.1:p.Glu760Lys
XM_011518556.1:c.3247G>A	XP_011516858.1:p.Glu1083Lys
XM_011518557.1:c.3079G>A	XP_011516859.1:p.Glu1027Lys
XM_011518558.1:c.3079G>A	XP_011516860.1:p.Glu1027Lys
XM_005251934.3:c.2278G>A	XP_005251991.1:p.Glu760Lys
XM_011518556.3:c.3247G>A	XP_011516858.1:p.Glu1083Lys
XM_011518557.3:c.3079G>A	XP_011516859.1:p.Glu1027Lys
XM_011518558.3:c.3079G>A	XP_011516860.1:p.Glu1027Lys
NM_173689.7:c.3274G>A MANE Select	NP_775960.4:p.Glu1092Lys
NR_104603.2:n.2388G>A