Canonical Allele Identifier: CA2680562560

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373401-T-TGCTGCCAGAGCC

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373404_139373415dup , CM000668.2:g.139373404_139373415dup	GRCh38
NC_000006.11:g.139694541_139694552dup , CM000668.1:g.139694541_139694552dup	GRCh37
NC_000006.10:g.139736234_139736245dup	NCBI36
NG_016169.1:g.6236_6247dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.532_543dup MANE Select	ENSP00000356623.2:p.Ser181_Ser182insGlySerGlySer
ENST00000367651.3:c.532_543dup	ENSP00000356623.2:p.Ser181_Ser182insGlySerGlySer
ENST00000536159.2:c.532_543dup	ENSP00000442831.1:p.Ser181_Ser182insGlySerGlySer
ENST00000537332.2:c.547_558dup	ENSP00000444198.2:p.Ser186_Ser187insGlySerGlySer
ENST00000618718.1:c.476+56_476+67dup	ENSP00000479918.1:n.476+56_476+67dup
NM_001168388.2:c.532_543dup	NP_001161860.1:p.Ser181_Ser182insGlySerGlySer
NM_001168389.2:c.547_558dup	NP_001161861.2:p.Ser186_Ser187insGlySerGlySer
NM_006079.4:c.532_543dup	NP_006070.2:p.Ser181_Ser182insGlySerGlySer
NM_006079.5:c.532_543dup MANE Select	NP_006070.2:p.Ser181_Ser182insGlySerGlySer
NM_001168388.3:c.532_543dup	NP_001161860.1:p.Ser181_Ser182insGlySerGlySer
NM_001168389.3:c.547_558dup	NP_001161861.2:p.Ser186_Ser187insGlySerGlySer