Canonical Allele Identifier: CA1128947713

Gene: CRB2

Linked Data

• dbSNP Id: rs2042107093
• gnomAD v3: 9-123376628-A-C
• gnomAD v4: 9-123376628-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376628A>C , CM000671.2:g.123376628A>C	GRCh38
NC_000009.11:g.126138907A>C , CM000671.1:g.126138907A>C	GRCh37
NC_000009.10:g.125178728A>C	NCBI36
NG_051311.1:g.27564A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3634-210A>C MANE Select	ENSP00000362734.3:n.3634-210A>C
ENST00000373631.7:c.3634-210A>C	ENSP00000362734.3:n.3634-210A>C
ENST00000460253.1:c.2638-210A>C	ENSP00000435279.1:n.2638-210A>C
NM_173689.6:c.3634-210A>C	NP_775960.4:n.3634-210A>C
NR_104603.1:n.2748-210A>C
XM_005251934.1:c.2638-210A>C	XP_005251991.1:n.2638-210A>C
XM_011518556.1:c.3607-210A>C	XP_011516858.1:n.3607-210A>C
XM_011518557.1:c.3439-210A>C	XP_011516859.1:n.3439-210A>C
XM_011518558.1:c.3439-210A>C	XP_011516860.1:n.3439-210A>C
XM_005251934.3:c.2638-210A>C	XP_005251991.1:n.2638-210A>C
XM_011518556.3:c.3607-210A>C	XP_011516858.1:n.3607-210A>C
XM_011518557.3:c.3439-210A>C	XP_011516859.1:n.3439-210A>C
XM_011518558.3:c.3439-210A>C	XP_011516860.1:n.3439-210A>C
NM_173689.7:c.3634-210A>C MANE Select	NP_775960.4:n.3634-210A>C
NR_104603.2:n.2748-210A>C