Canonical Allele Identifier: CA467089898

Gene: CRB2

Linked Data

• gnomAD v4: 9-123376870-G-T
• MyVariant Identifiers: chr9:g.126139149G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376870G>T , CM000671.2:g.123376870G>T	GRCh38
NC_000009.11:g.126139149G>T , CM000671.1:g.126139149G>T	GRCh37
NC_000009.10:g.125178970G>T	NCBI36
NG_051311.1:g.27806G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3666G>T MANE Select	ENSP00000362734.3:p.Leu1222=
ENST00000373631.7:c.3666G>T	ENSP00000362734.3:p.Leu1222=
ENST00000460253.1:c.2670G>T	ENSP00000435279.1:p.Leu890=
NM_173689.6:c.3666G>T	NP_775960.4:p.Leu1222=
NR_104603.1:n.2780G>T
XM_005251934.1:c.2670G>T	XP_005251991.1:p.Leu890=
XM_011518556.1:c.3639G>T	XP_011516858.1:p.Leu1213=
XM_011518557.1:c.3471G>T	XP_011516859.1:p.Leu1157=
XM_011518558.1:c.3471G>T	XP_011516860.1:p.Leu1157=
XM_005251934.3:c.2670G>T	XP_005251991.1:p.Leu890=
XM_011518556.3:c.3639G>T	XP_011516858.1:p.Leu1213=
XM_011518557.3:c.3471G>T	XP_011516859.1:p.Leu1157=
XM_011518558.3:c.3471G>T	XP_011516860.1:p.Leu1157=
NM_173689.7:c.3666G>T MANE Select	NP_775960.4:p.Leu1222=
NR_104603.2:n.2780G>T