Canonical Allele Identifier: CA374869728

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139228C>G (hg19) ; chr9:g.123376949C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376949C>G , CM000671.2:g.123376949C>G	GRCh38
NC_000009.11:g.126139228C>G , CM000671.1:g.126139228C>G	GRCh37
NC_000009.10:g.125179049C>G	NCBI36
NG_051311.1:g.27885C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3745C>G MANE Select	ENSP00000362734.3:p.Arg1249Gly
ENST00000373631.7:c.3745C>G	ENSP00000362734.3:p.Arg1249Gly
ENST00000460253.1:c.2749C>G	ENSP00000435279.1:p.Arg917Gly
NM_173689.6:c.3745C>G	NP_775960.4:p.Arg1249Gly
NR_104603.1:n.2859C>G
XM_005251934.1:c.2749C>G	XP_005251991.1:p.Arg917Gly
XM_011518556.1:c.3718C>G	XP_011516858.1:p.Arg1240Gly
XM_011518557.1:c.3550C>G	XP_011516859.1:p.Arg1184Gly
XM_011518558.1:c.3550C>G	XP_011516860.1:p.Arg1184Gly
XM_005251934.3:c.2749C>G	XP_005251991.1:p.Arg917Gly
XM_011518556.3:c.3718C>G	XP_011516858.1:p.Arg1240Gly
XM_011518557.3:c.3550C>G	XP_011516859.1:p.Arg1184Gly
XM_011518558.3:c.3550C>G	XP_011516860.1:p.Arg1184Gly
NM_173689.7:c.3745C>G MANE Select	NP_775960.4:p.Arg1249Gly
NR_104603.2:n.2859C>G