Canonical Allele Identifier: CA452441706
Gene: CITED2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.139694545A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373408A>G , CM000668.2:g.139373408A>G GRCh38
NC_000006.11:g.139694545A>G , CM000668.1:g.139694545A>G GRCh37
NC_000006.10:g.139736238A>G NCBI36
NG_016169.1:g.6241T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.537T>C MANE Select ENSP00000356623.2:p.Ser179=
ENST00000367651.3:c.537T>C ENSP00000356623.2:p.Ser179=
ENST00000536159.2:c.537T>C ENSP00000442831.1:p.Ser179=
ENST00000537332.2:c.552T>C ENSP00000444198.2:p.Ser184=
ENST00000618718.1:c.476+61T>C ENSP00000479918.1:n.476+61T>C
NM_001168388.2:c.537T>C NP_001161860.1:p.Ser179=
NM_001168389.2:c.552T>C NP_001161861.2:p.Ser184=
NM_006079.4:c.537T>C NP_006070.2:p.Ser179=
NM_006079.5:c.537T>C MANE Select NP_006070.2:p.Ser179=
NM_001168388.3:c.537T>C NP_001161860.1:p.Ser179=
NM_001168389.3:c.552T>C NP_001161861.2:p.Ser184=