Canonical Allele Identifier: CA467090008

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376885-A-G
• MyVariant Identifiers: chr9:g.126139164A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376885A>G , CM000671.2:g.123376885A>G	GRCh38
NC_000009.11:g.126139164A>G , CM000671.1:g.126139164A>G	GRCh37
NC_000009.10:g.125178985A>G	NCBI36
NG_051311.1:g.27821A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3681A>G MANE Select	ENSP00000362734.3:p.Val1227=
ENST00000373631.7:c.3681A>G	ENSP00000362734.3:p.Val1227=
ENST00000460253.1:c.2685A>G	ENSP00000435279.1:p.Val895=
NM_173689.6:c.3681A>G	NP_775960.4:p.Val1227=
NR_104603.1:n.2795A>G
XM_005251934.1:c.2685A>G	XP_005251991.1:p.Val895=
XM_011518556.1:c.3654A>G	XP_011516858.1:p.Val1218=
XM_011518557.1:c.3486A>G	XP_011516859.1:p.Val1162=
XM_011518558.1:c.3486A>G	XP_011516860.1:p.Val1162=
XM_005251934.3:c.2685A>G	XP_005251991.1:p.Val895=
XM_011518556.3:c.3654A>G	XP_011516858.1:p.Val1218=
XM_011518557.3:c.3486A>G	XP_011516859.1:p.Val1162=
XM_011518558.3:c.3486A>G	XP_011516860.1:p.Val1162=
NM_173689.7:c.3681A>G MANE Select	NP_775960.4:p.Val1227=
NR_104603.2:n.2795A>G