Canonical Allele Identifier: CA365876633
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs1562314259

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373344T>G , CM000668.2:g.139373344T>G GRCh38
NC_000006.11:g.139694481T>G , CM000668.1:g.139694481T>G GRCh37
NC_000006.10:g.139736174T>G NCBI36
NG_016169.1:g.6305A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.601A>C MANE Select ENSP00000356623.2:p.Met201Leu
ENST00000367651.3:c.601A>C ENSP00000356623.2:p.Met201Leu
ENST00000536159.2:c.601A>C ENSP00000442831.1:p.Met201Leu
ENST00000537332.2:c.616A>C ENSP00000444198.2:p.Met206Leu
ENST00000618718.1:c.477-47A>C ENSP00000479918.1:n.477-47A>C
NM_001168388.2:c.601A>C NP_001161860.1:p.Met201Leu
NM_001168389.2:c.616A>C NP_001161861.2:p.Met206Leu
NM_006079.4:c.601A>C NP_006070.2:p.Met201Leu
NM_006079.5:c.601A>C MANE Select NP_006070.2:p.Met201Leu
NM_001168388.3:c.601A>C NP_001161860.1:p.Met201Leu
NM_001168389.3:c.616A>C NP_001161861.2:p.Met206Leu