Canonical Allele Identifier: CA374864192

Gene: CRB2

Linked Data

• dbSNP Id: rs879255250
• MyVariant Identifiers: chr9:g.126133191G>T (hg19) ; chr9:g.123370912G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123370912G>T , CM000671.2:g.123370912G>T	GRCh38
NC_000009.11:g.126133191G>T , CM000671.1:g.126133191G>T	GRCh37
NC_000009.10:g.125173012G>T	NCBI36
NG_051311.1:g.21848G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373631.8:c.1859G>T MANE Select	ENSP00000362734.3:p.Cys620Phe
ENST00000359999.7:c.1859G>T	ENSP00000353092.3:p.Cys620Phe
ENST00000373631.7:c.1859G>T	ENSP00000362734.3:p.Cys620Phe
ENST00000460253.1:c.863G>T	ENSP00000435279.1:p.Cys288Phe
NM_173689.6:c.1859G>T	NP_775960.4:p.Cys620Phe
NR_104603.1:n.973G>T
XM_005251934.1:c.863G>T	XP_005251991.1:p.Cys288Phe
XM_011518556.1:c.1859G>T	XP_011516858.1:p.Cys620Phe
XM_011518557.1:c.1664G>T	XP_011516859.1:p.Cys555Phe
XM_011518558.1:c.1664G>T	XP_011516860.1:p.Cys555Phe
XM_005251934.3:c.863G>T	XP_005251991.1:p.Cys288Phe
XM_011518556.3:c.1859G>T	XP_011516858.1:p.Cys620Phe
XM_011518557.3:c.1664G>T	XP_011516859.1:p.Cys555Phe
XM_011518558.3:c.1664G>T	XP_011516860.1:p.Cys555Phe
NM_173689.7:c.1859G>T MANE Select	NP_775960.4:p.Cys620Phe
NR_104603.2:n.973G>T