Canonical Allele Identifier: CA590936453

Gene: CRB2

Linked Data

• dbSNP Id: rs1235211670
• gnomAD v2: 9-126139397-G-C
• gnomAD v3: 9-123377118-G-C
• gnomAD v4: 9-123377118-G-C
• MyVariant Identifiers: chr9:g.126139397G>C (hg19) ; chr9:g.123377118G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377118G>C , CM000671.2:g.123377118G>C	GRCh38
NC_000009.11:g.126139397G>C , CM000671.1:g.126139397G>C	GRCh37
NC_000009.10:g.125179218G>C	NCBI36
NG_051311.1:g.28054G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*56G>C MANE Select	ENSP00000362734.3:n.*56G>C
ENST00000373631.7:c.*56G>C	ENSP00000362734.3:n.*56G>C
ENST00000460253.1:c.*56G>C	ENSP00000435279.1:n.*56G>C
NM_173689.6:c.*56G>C	NP_775960.4:n.*56G>C
NR_104603.1:n.3028G>C
XM_005251934.1:c.*56G>C	XP_005251991.1:n.*56G>C
XM_011518556.1:c.*56G>C	XP_011516858.1:n.*56G>C
XM_011518557.1:c.*56G>C	XP_011516859.1:n.*56G>C
XM_011518558.1:c.*56G>C	XP_011516860.1:n.*56G>C
XM_005251934.3:c.*56G>C	XP_005251991.1:n.*56G>C
XM_011518556.3:c.*56G>C	XP_011516858.1:n.*56G>C
XM_011518557.3:c.*56G>C	XP_011516859.1:n.*56G>C
XM_011518558.3:c.*56G>C	XP_011516860.1:n.*56G>C
NM_173689.7:c.*56G>C MANE Select	NP_775960.4:n.*56G>C
NR_104603.2:n.3028G>C