Canonical Allele Identifier: CA2691592096

Gene: CRB2

Linked Data

• gnomAD v4: 9-123377110-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377110T>A , CM000671.2:g.123377110T>A	GRCh38
NC_000009.11:g.126139389T>A , CM000671.1:g.126139389T>A	GRCh37
NC_000009.10:g.125179210T>A	NCBI36
NG_051311.1:g.28046T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.*48T>A MANE Select	ENSP00000362734.3:n.*48T>A
ENST00000373631.7:c.*48T>A	ENSP00000362734.3:n.*48T>A
ENST00000460253.1:c.*48T>A	ENSP00000435279.1:n.*48T>A
NM_173689.6:c.*48T>A	NP_775960.4:n.*48T>A
NR_104603.1:n.3020T>A
XM_005251934.1:c.*48T>A	XP_005251991.1:n.*48T>A
XM_011518556.1:c.*48T>A	XP_011516858.1:n.*48T>A
XM_011518557.1:c.*48T>A	XP_011516859.1:n.*48T>A
XM_011518558.1:c.*48T>A	XP_011516860.1:n.*48T>A
XM_005251934.3:c.*48T>A	XP_005251991.1:n.*48T>A
XM_011518556.3:c.*48T>A	XP_011516858.1:n.*48T>A
XM_011518557.3:c.*48T>A	XP_011516859.1:n.*48T>A
XM_011518558.3:c.*48T>A	XP_011516860.1:n.*48T>A
NM_173689.7:c.*48T>A MANE Select	NP_775960.4:n.*48T>A
NR_104603.2:n.3020T>A