Canonical Allele Identifier: CA5232627

Gene: CRB2

Linked Data

• dbSNP Id: rs763834494
• ExAC: 9:126139363 A / C
• gnomAD v2: 9-126139363-A-C
• gnomAD v4: 9-123377084-A-C
• MyVariant Identifiers: chr9:g.126139363A>C (hg19) ; chr9:g.123377084A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377084A>C , CM000671.2:g.123377084A>C	GRCh38
NC_000009.11:g.126139363A>C , CM000671.1:g.126139363A>C	GRCh37
NC_000009.10:g.125179184A>C	NCBI36
NG_051311.1:g.28020A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*22A>C MANE Select	ENSP00000362734.3:n.*22A>C
ENST00000373631.7:c.*22A>C	ENSP00000362734.3:n.*22A>C
ENST00000460253.1:c.*22A>C	ENSP00000435279.1:n.*22A>C
NM_173689.6:c.*22A>C	NP_775960.4:n.*22A>C
NR_104603.1:n.2994A>C
XM_005251934.1:c.*22A>C	XP_005251991.1:n.*22A>C
XM_011518556.1:c.*22A>C	XP_011516858.1:n.*22A>C
XM_011518557.1:c.*22A>C	XP_011516859.1:n.*22A>C
XM_011518558.1:c.*22A>C	XP_011516860.1:n.*22A>C
XM_005251934.3:c.*22A>C	XP_005251991.1:n.*22A>C
XM_011518556.3:c.*22A>C	XP_011516858.1:n.*22A>C
XM_011518557.3:c.*22A>C	XP_011516859.1:n.*22A>C
XM_011518558.3:c.*22A>C	XP_011516860.1:n.*22A>C
NM_173689.7:c.*22A>C MANE Select	NP_775960.4:n.*22A>C
NR_104603.2:n.2994A>C