Canonical Allele Identifier: CA452441395
Gene: CITED2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.139694401A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373264A>G , CM000668.2:g.139373264A>G GRCh38
NC_000006.11:g.139694401A>G , CM000668.1:g.139694401A>G GRCh37
NC_000006.10:g.139736094A>G NCBI36
NG_016169.1:g.6385T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.681T>C MANE Select ENSP00000356623.2:p.Val227=
ENST00000367651.3:c.681T>C ENSP00000356623.2:p.Val227=
ENST00000536159.2:c.681T>C ENSP00000442831.1:p.Val227=
ENST00000537332.2:c.696T>C ENSP00000444198.2:p.Val232=
ENST00000618718.1:c.510T>C ENSP00000479918.1:p.Val170=
NM_001168388.2:c.681T>C NP_001161860.1:p.Val227=
NM_001168389.2:c.696T>C NP_001161861.2:p.Val232=
NM_006079.4:c.681T>C NP_006070.2:p.Val227=
NM_006079.5:c.681T>C MANE Select NP_006070.2:p.Val227=
NM_001168388.3:c.681T>C NP_001161860.1:p.Val227=
NM_001168389.3:c.696T>C NP_001161861.2:p.Val232=