Canonical Allele Identifier: CA374869876

Gene: CRB2

Linked Data

• dbSNP Id: rs1434409395
• gnomAD v2: 9-126139298-T-G
• gnomAD v4: 9-123377019-T-G
• MyVariant Identifiers: chr9:g.126139298T>G (hg19) ; chr9:g.123377019T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377019T>G , CM000671.2:g.123377019T>G	GRCh38
NC_000009.11:g.126139298T>G , CM000671.1:g.126139298T>G	GRCh37
NC_000009.10:g.125179119T>G	NCBI36
NG_051311.1:g.27955T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3815T>G MANE Select	ENSP00000362734.3:p.Met1272Arg
ENST00000373631.7:c.3815T>G	ENSP00000362734.3:p.Met1272Arg
ENST00000460253.1:c.2819T>G	ENSP00000435279.1:p.Met940Arg
NM_173689.6:c.3815T>G	NP_775960.4:p.Met1272Arg
NR_104603.1:n.2929T>G
XM_005251934.1:c.2819T>G	XP_005251991.1:p.Met940Arg
XM_011518556.1:c.3788T>G	XP_011516858.1:p.Met1263Arg
XM_011518557.1:c.3620T>G	XP_011516859.1:p.Met1207Arg
XM_011518558.1:c.3620T>G	XP_011516860.1:p.Met1207Arg
XM_005251934.3:c.2819T>G	XP_005251991.1:p.Met940Arg
XM_011518556.3:c.3788T>G	XP_011516858.1:p.Met1263Arg
XM_011518557.3:c.3620T>G	XP_011516859.1:p.Met1207Arg
XM_011518558.3:c.3620T>G	XP_011516860.1:p.Met1207Arg
NM_173689.7:c.3815T>G MANE Select	NP_775960.4:p.Met1272Arg
NR_104603.2:n.2929T>G