Canonical Allele Identifier: CA1667372377

Gene: CITED2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373398_139373425delinsAGCTGCTGCCAGAGCCGCCGGGGGTGCT , CM000668.2:g.139373398_139373425delinsAGCTGCTGCCAGAGCCGCCGGGGGTGCT	GRCh38
NC_000006.11:g.139694535_139694562delinsAGCTGCTGCCAGAGCCGCCGGGGGTGCT , CM000668.1:g.139694535_139694562delinsAGCTGCTGCCAGAGCCGCCGGGGGTGCT	GRCh37
NC_000006.10:g.139736228_139736255delinsAGCTGCTGCCAGAGCCGCCGGGGGTGCT	NCBI36
NG_016169.1:g.6224_6251delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT MANE Select	ENSP00000356623.2:p.Ser174=
ENST00000367651.3:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	ENSP00000356623.2:p.Ser174=
ENST00000536159.2:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	ENSP00000442831.1:p.Ser174=
ENST00000537332.2:c.535_562delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	ENSP00000444198.2:p.Ser179=
ENST00000618718.1:c.476+44_476+71delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	ENSP00000479918.1:n.476+44_476+71delinsAGCACCCCCGGCGGCTCTGGCA...
NM_001168388.2:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	NP_001161860.1:p.Ser174=
NM_001168389.2:c.535_562delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	NP_001161861.2:p.Ser179=
NM_006079.4:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	NP_006070.2:p.Ser174=
NM_006079.5:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT MANE Select	NP_006070.2:p.Ser174=
NM_001168388.3:c.520_547delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	NP_001161860.1:p.Ser174=
NM_001168389.3:c.535_562delinsAGCACCCCCGGCGGCTCTGGCAGCAGCT	NP_001161861.2:p.Ser179=