Canonical Allele Identifier: CA467091159

Gene: CRB2

Linked Data

• MyVariant Identifiers: chr9:g.126139317G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377038G>C , CM000671.2:g.123377038G>C	GRCh38
NC_000009.11:g.126139317G>C , CM000671.1:g.126139317G>C	GRCh37
NC_000009.10:g.125179138G>C	NCBI36
NG_051311.1:g.27974G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3834G>C MANE Select	ENSP00000362734.3:p.Val1278=
ENST00000373631.7:c.3834G>C	ENSP00000362734.3:p.Val1278=
ENST00000460253.1:c.2838G>C	ENSP00000435279.1:p.Val946=
NM_173689.6:c.3834G>C	NP_775960.4:p.Val1278=
NR_104603.1:n.2948G>C
XM_005251934.1:c.2838G>C	XP_005251991.1:p.Val946=
XM_011518556.1:c.3807G>C	XP_011516858.1:p.Val1269=
XM_011518557.1:c.3639G>C	XP_011516859.1:p.Val1213=
XM_011518558.1:c.3639G>C	XP_011516860.1:p.Val1213=
XM_005251934.3:c.2838G>C	XP_005251991.1:p.Val946=
XM_011518556.3:c.3807G>C	XP_011516858.1:p.Val1269=
XM_011518557.3:c.3639G>C	XP_011516859.1:p.Val1213=
XM_011518558.3:c.3639G>C	XP_011516860.1:p.Val1213=
NM_173689.7:c.3834G>C MANE Select	NP_775960.4:p.Val1278=
NR_104603.2:n.2948G>C