Canonical Allele Identifier: CA374869650

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139184T>G (hg19) ; chr9:g.123376905T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376905T>G , CM000671.2:g.123376905T>G	GRCh38
NC_000009.11:g.126139184T>G , CM000671.1:g.126139184T>G	GRCh37
NC_000009.10:g.125179005T>G	NCBI36
NG_051311.1:g.27841T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3701T>G MANE Select	ENSP00000362734.3:p.Leu1234Arg
ENST00000373631.7:c.3701T>G	ENSP00000362734.3:p.Leu1234Arg
ENST00000460253.1:c.2705T>G	ENSP00000435279.1:p.Leu902Arg
NM_173689.6:c.3701T>G	NP_775960.4:p.Leu1234Arg
NR_104603.1:n.2815T>G
XM_005251934.1:c.2705T>G	XP_005251991.1:p.Leu902Arg
XM_011518556.1:c.3674T>G	XP_011516858.1:p.Leu1225Arg
XM_011518557.1:c.3506T>G	XP_011516859.1:p.Leu1169Arg
XM_011518558.1:c.3506T>G	XP_011516860.1:p.Leu1169Arg
XM_005251934.3:c.2705T>G	XP_005251991.1:p.Leu902Arg
XM_011518556.3:c.3674T>G	XP_011516858.1:p.Leu1225Arg
XM_011518557.3:c.3506T>G	XP_011516859.1:p.Leu1169Arg
XM_011518558.3:c.3506T>G	XP_011516860.1:p.Leu1169Arg
NM_173689.7:c.3701T>G MANE Select	NP_775960.4:p.Leu1234Arg
NR_104603.2:n.2815T>G