Canonical Allele Identifier: CA1667372398
Gene: CITED2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373421_139373451delinsGTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC , CM000668.2:g.139373421_139373451delinsGTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC GRCh38
NC_000006.11:g.139694558_139694588delinsGTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC , CM000668.1:g.139694558_139694588delinsGTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC GRCh37
NC_000006.10:g.139736251_139736281delinsGTGCTGCTGCCGCCCGAGCCGCCGGGGGTGC NCBI36
NG_016169.1:g.6198_6228delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC MANE Select ENSP00000356623.2:p.Ser165=
ENST00000367651.3:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC ENSP00000356623.2:p.Ser165=
ENST00000536159.2:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC ENSP00000442831.1:p.Ser165=
ENST00000537332.2:c.509_539delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC ENSP00000444198.2:p.Ser170=
ENST00000618718.1:c.476+18_476+48delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC ENSP00000479918.1:n.476+18_476+48delinsGCACCCCCGGCGGCTCGGGCGG...
NM_001168388.2:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC NP_001161860.1:p.Ser165=
NM_001168389.2:c.509_539delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC NP_001161861.2:p.Ser170=
NM_006079.4:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC NP_006070.2:p.Ser165=
NM_006079.5:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC MANE Select NP_006070.2:p.Ser165=
NM_001168388.3:c.494_524delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC NP_001161860.1:p.Ser165=
NM_001168389.3:c.509_539delinsGCACCCCCGGCGGCTCGGGCGGCAGCAGCAC NP_001161861.2:p.Ser170=