Canonical Allele Identifier: CA1667372359
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373374_139373398delinsTGCTGCTGCCCGCGCCGCCGCCCGA , CM000668.2:g.139373374_139373398delinsTGCTGCTGCCCGCGCCGCCGCCCGA GRCh38
NC_000006.11:g.139694511_139694535delinsTGCTGCTGCCCGCGCCGCCGCCCGA , CM000668.1:g.139694511_139694535delinsTGCTGCTGCCCGCGCCGCCGCCCGA GRCh37
NC_000006.10:g.139736204_139736228delinsTGCTGCTGCCCGCGCCGCCGCCCGA NCBI36
NG_016169.1:g.6251_6275delinsTCGGGCGGCGGCGCGGGCAGCAGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA MANE Select ENSP00000356623.2:p.Ser183=
ENST00000367651.3:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA ENSP00000356623.2:p.Ser183=
ENST00000536159.2:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA ENSP00000442831.1:p.Ser183=
ENST00000537332.2:c.562_586delinsTCGGGCGGCGGCGCGGGCAGCAGCA ENSP00000444198.2:p.Ser188=
ENST00000618718.1:c.476+71_477-77delinsTCGGGCGGCGGCGCGGGCAGCAGCA ENSP00000479918.1:n.476+71_477-77delinsTCGGGCGGCGGCGCGGGCAGCA...
NM_001168388.2:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA NP_001161860.1:p.Ser183=
NM_001168389.2:c.562_586delinsTCGGGCGGCGGCGCGGGCAGCAGCA NP_001161861.2:p.Ser188=
NM_006079.4:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA NP_006070.2:p.Ser183=
NM_006079.5:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA MANE Select NP_006070.2:p.Ser183=
NM_001168388.3:c.547_571delinsTCGGGCGGCGGCGCGGGCAGCAGCA NP_001161860.1:p.Ser183=
NM_001168389.3:c.562_586delinsTCGGGCGGCGGCGCGGGCAGCAGCA NP_001161861.2:p.Ser188=