Canonical Allele Identifier: CA374869913

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139315G>T (hg19) ; chr9:g.123377036G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377036G>T , CM000671.2:g.123377036G>T	GRCh38
NC_000009.11:g.126139315G>T , CM000671.1:g.126139315G>T	GRCh37
NC_000009.10:g.125179136G>T	NCBI36
NG_051311.1:g.27972G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3832G>T MANE Select	ENSP00000362734.3:p.Val1278Leu
ENST00000373631.7:c.3832G>T	ENSP00000362734.3:p.Val1278Leu
ENST00000460253.1:c.2836G>T	ENSP00000435279.1:p.Val946Leu
NM_173689.6:c.3832G>T	NP_775960.4:p.Val1278Leu
NR_104603.1:n.2946G>T
XM_005251934.1:c.2836G>T	XP_005251991.1:p.Val946Leu
XM_011518556.1:c.3805G>T	XP_011516858.1:p.Val1269Leu
XM_011518557.1:c.3637G>T	XP_011516859.1:p.Val1213Leu
XM_011518558.1:c.3637G>T	XP_011516860.1:p.Val1213Leu
XM_005251934.3:c.2836G>T	XP_005251991.1:p.Val946Leu
XM_011518556.3:c.3805G>T	XP_011516858.1:p.Val1269Leu
XM_011518557.3:c.3637G>T	XP_011516859.1:p.Val1213Leu
XM_011518558.3:c.3637G>T	XP_011516860.1:p.Val1213Leu
NM_173689.7:c.3832G>T MANE Select	NP_775960.4:p.Val1278Leu
NR_104603.2:n.2946G>T