Canonical Allele Identifier: CA467090262

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376918-C-A
• MyVariant Identifiers: chr9:g.126139197C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376918C>A , CM000671.2:g.123376918C>A	GRCh38
NC_000009.11:g.126139197C>A , CM000671.1:g.126139197C>A	GRCh37
NC_000009.10:g.125179018C>A	NCBI36
NG_051311.1:g.27854C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3714C>A MANE Select	ENSP00000362734.3:p.Leu1238=
ENST00000373631.7:c.3714C>A	ENSP00000362734.3:p.Leu1238=
ENST00000460253.1:c.2718C>A	ENSP00000435279.1:p.Leu906=
NM_173689.6:c.3714C>A	NP_775960.4:p.Leu1238=
NR_104603.1:n.2828C>A
XM_005251934.1:c.2718C>A	XP_005251991.1:p.Leu906=
XM_011518556.1:c.3687C>A	XP_011516858.1:p.Leu1229=
XM_011518557.1:c.3519C>A	XP_011516859.1:p.Leu1173=
XM_011518558.1:c.3519C>A	XP_011516860.1:p.Leu1173=
XM_005251934.3:c.2718C>A	XP_005251991.1:p.Leu906=
XM_011518556.3:c.3687C>A	XP_011516858.1:p.Leu1229=
XM_011518557.3:c.3519C>A	XP_011516859.1:p.Leu1173=
XM_011518558.3:c.3519C>A	XP_011516860.1:p.Leu1173=
NM_173689.7:c.3714C>A MANE Select	NP_775960.4:p.Leu1238=
NR_104603.2:n.2828C>A