Canonical Allele Identifier: CA199643121

Gene: CRB2

Linked Data

• dbSNP Id: rs1049615495
• gnomAD v2: 9-126139322-C-G
• gnomAD v4: 9-123377043-C-G
• MyVariant Identifiers: chr9:g.126139322C>G (hg19) ; chr9:g.126139322_126139325delinsGGGA (hg19) ; chr9:g.123377043C>G (hg38) ; chr9:g.123377043_123377046delinsGGGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377043C>G , CM000671.2:g.123377043C>G	GRCh38
NC_000009.11:g.126139322C>G , CM000671.1:g.126139322C>G	GRCh37
NC_000009.10:g.125179143C>G	NCBI36
NG_051311.1:g.27979C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3839C>G MANE Select	ENSP00000362734.3:p.Pro1280Arg
ENST00000373631.7:c.3839C>G	ENSP00000362734.3:p.Pro1280Arg
ENST00000460253.1:c.2843C>G	ENSP00000435279.1:p.Pro948Arg
NM_173689.6:c.3839C>G	NP_775960.4:p.Pro1280Arg
NR_104603.1:n.2953C>G
XM_005251934.1:c.2843C>G	XP_005251991.1:p.Pro948Arg
XM_011518556.1:c.3812C>G	XP_011516858.1:p.Pro1271Arg
XM_011518557.1:c.3644C>G	XP_011516859.1:p.Pro1215Arg
XM_011518558.1:c.3644C>G	XP_011516860.1:p.Pro1215Arg
XM_005251934.3:c.2843C>G	XP_005251991.1:p.Pro948Arg
XM_011518556.3:c.3812C>G	XP_011516858.1:p.Pro1271Arg
XM_011518557.3:c.3644C>G	XP_011516859.1:p.Pro1215Arg
XM_011518558.3:c.3644C>G	XP_011516860.1:p.Pro1215Arg
NM_173689.7:c.3839C>G MANE Select	NP_775960.4:p.Pro1280Arg
NR_104603.2:n.2953C>G