Canonical Allele Identifier: CA5232594

Gene: CRB2

Linked Data

• dbSNP Id: rs747403093
• ExAC: 9:126139185 C / G
• gnomAD v2: 9-126139185-C-G
• MyVariant Identifiers: chr9:g.126139185C>G (hg19) ; chr9:g.123376906C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123376906C>G , CM000671.2:g.123376906C>G	GRCh38
NC_000009.11:g.126139185C>G , CM000671.1:g.126139185C>G	GRCh37
NC_000009.10:g.125179006C>G	NCBI36
NG_051311.1:g.27842C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3702C>G MANE Select	ENSP00000362734.3:p.Leu1234=
ENST00000373631.7:c.3702C>G	ENSP00000362734.3:p.Leu1234=
ENST00000460253.1:c.2706C>G	ENSP00000435279.1:p.Leu902=
NM_173689.6:c.3702C>G	NP_775960.4:p.Leu1234=
NR_104603.1:n.2816C>G
XM_005251934.1:c.2706C>G	XP_005251991.1:p.Leu902=
XM_011518556.1:c.3675C>G	XP_011516858.1:p.Leu1225=
XM_011518557.1:c.3507C>G	XP_011516859.1:p.Leu1169=
XM_011518558.1:c.3507C>G	XP_011516860.1:p.Leu1169=
XM_005251934.3:c.2706C>G	XP_005251991.1:p.Leu902=
XM_011518556.3:c.3675C>G	XP_011516858.1:p.Leu1225=
XM_011518557.3:c.3507C>G	XP_011516859.1:p.Leu1169=
XM_011518558.3:c.3507C>G	XP_011516860.1:p.Leu1169=
NM_173689.7:c.3702C>G MANE Select	NP_775960.4:p.Leu1234=
NR_104603.2:n.2816C>G