Canonical Allele Identifier: CA365876477
Gene: CITED2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373268T>G , CM000668.2:g.139373268T>G GRCh38
NC_000006.11:g.139694405T>G , CM000668.1:g.139694405T>G GRCh37
NC_000006.10:g.139736098T>G NCBI36
NG_016169.1:g.6381A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.677A>C MANE Select ENSP00000356623.2:p.Glu226Ala
ENST00000367651.3:c.677A>C ENSP00000356623.2:p.Glu226Ala
ENST00000536159.2:c.677A>C ENSP00000442831.1:p.Glu226Ala
ENST00000537332.2:c.692A>C ENSP00000444198.2:p.Glu231Ala
ENST00000618718.1:c.506A>C ENSP00000479918.1:p.Glu169Ala
NM_001168388.2:c.677A>C NP_001161860.1:p.Glu226Ala
NM_001168389.2:c.692A>C NP_001161861.2:p.Glu231Ala
NM_006079.4:c.677A>C NP_006070.2:p.Glu226Ala
NM_006079.5:c.677A>C MANE Select NP_006070.2:p.Glu226Ala
NM_001168388.3:c.677A>C NP_001161860.1:p.Glu226Ala
NM_001168389.3:c.692A>C NP_001161861.2:p.Glu231Ala