Canonical Allele Identifier: CA570979107

Gene: CITED2

Linked Data

• ClinVar Variation Id: 3054446
• ClinVar RCV Id: RCV003969407
• dbSNP Id: rs779637348
• gnomAD v2: 6-139694545-A-AGAGCCGCCGGGGGTGCTGCTGCCGCCC
• gnomAD v3: 6-139373408-A-AGAGCCGCCGGGGGTGCTGCTGCCGCCC
• gnomAD v4: 6-139373408-A-AGAGCCGCCGGGGGTGCTGCTGCCGCCC
• MyVariant Identifiers: chr6:g.139694572_139694573insGAGCCGCCGGGGGTGCTGCTGCCGCCC (hg19) ; chr6:g.139373435_139373436insGAGCCGCCGGGGGTGCTGCTGCCGCCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373435_139373461dup , CM000668.2:g.139373435_139373461dup	GRCh38
NC_000006.11:g.139694572_139694598dup , CM000668.1:g.139694572_139694598dup	GRCh37
NC_000006.10:g.139736265_139736291dup	NCBI36
NG_016169.1:g.6214_6240dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.510_536dup MANE Select	ENSP00000356623.2:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlyS...
ENST00000367651.3:c.510_536dup	ENSP00000356623.2:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlyS...
ENST00000536159.2:c.510_536dup	ENSP00000442831.1:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlyS...
ENST00000537332.2:c.525_551dup	ENSP00000444198.2:p.Ser184_Gly185insGlyGlySerSerThrProGlyGlyS...
ENST00000618718.1:c.476+34_476+60dup	ENSP00000479918.1:n.476+34_476+60dup
NM_001168388.2:c.510_536dup	NP_001161860.1:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlySer
NM_001168389.2:c.525_551dup	NP_001161861.2:p.Ser184_Gly185insGlyGlySerSerThrProGlyGlySer
NM_006079.4:c.510_536dup	NP_006070.2:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlySer
NM_006079.5:c.510_536dup MANE Select	NP_006070.2:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlySer
NM_001168388.3:c.510_536dup	NP_001161860.1:p.Ser179_Gly180insGlyGlySerSerThrProGlyGlySer
NM_001168389.3:c.525_551dup	NP_001161861.2:p.Ser184_Gly185insGlyGlySerSerThrProGlyGlySer