Canonical Allele Identifier: CA467091336

Gene: CRB2

Linked Data

• ClinVar Variation Id: 2822266
• ClinVar RCV Id: RCV003714020
• dbSNP Id: rs2042114334
• MyVariant Identifiers: chr9:g.126139338C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.123377059C>T , CM000671.2:g.123377059C>T	GRCh38
NC_000009.11:g.126139338C>T , CM000671.1:g.126139338C>T	GRCh37
NC_000009.10:g.125179159C>T	NCBI36
NG_051311.1:g.27995C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373631.8:c.3855C>T MANE Select	ENSP00000362734.3:p.Ile1285=
ENST00000373631.7:c.3855C>T	ENSP00000362734.3:p.Ile1285=
ENST00000460253.1:c.2859C>T	ENSP00000435279.1:p.Ile953=
NM_173689.6:c.3855C>T	NP_775960.4:p.Ile1285=
NR_104603.1:n.2969C>T
XM_005251934.1:c.2859C>T	XP_005251991.1:p.Ile953=
XM_011518556.1:c.3828C>T	XP_011516858.1:p.Ile1276=
XM_011518557.1:c.3660C>T	XP_011516859.1:p.Ile1220=
XM_011518558.1:c.3660C>T	XP_011516860.1:p.Ile1220=
XM_005251934.3:c.2859C>T	XP_005251991.1:p.Ile953=
XM_011518556.3:c.3828C>T	XP_011516858.1:p.Ile1276=
XM_011518557.3:c.3660C>T	XP_011516859.1:p.Ile1220=
XM_011518558.3:c.3660C>T	XP_011516860.1:p.Ile1220=
NM_173689.7:c.3855C>T MANE Select	NP_775960.4:p.Ile1285=
NR_104603.2:n.2969C>T