Canonical Allele Identifier: CA4025587

Gene: CITED2

Linked Data

• dbSNP Id: rs750037589
• ExAC: 6:139694535 A / AGCTGCTGCCAGAGCCGCCGGGGGT
• gnomAD v2: 6-139694535-A-AGCTGCTGCCAGAGCCGCCGGGGGT
• gnomAD v4: 6-139373398-A-AGCTGCTGCCAGAGCCGCCGGGGGT
• MyVariant Identifiers: chr6:g.139694535_139694536insGCTGCTGCCAGAGCCGCCGGGGGT (hg19) ; chr6:g.139373398_139373399insGCTGCTGCCAGAGCCGCCGGGGGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373408_139373431dup , CM000668.2:g.139373408_139373431dup	GRCh38
NC_000006.11:g.139694545_139694568dup , CM000668.1:g.139694545_139694568dup	GRCh37
NC_000006.10:g.139736238_139736261dup	NCBI36
NG_016169.1:g.6227_6250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.523_546dup MANE Select	ENSP00000356623.2:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
ENST00000367651.3:c.523_546dup	ENSP00000356623.2:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
ENST00000536159.2:c.523_546dup	ENSP00000442831.1:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
ENST00000537332.2:c.538_561dup	ENSP00000444198.2:p.Ser187_Ser188insThrProGlyGlySerGlySerSer
ENST00000618718.1:c.476+47_476+70dup	ENSP00000479918.1:n.476+47_476+70dup
NM_001168388.2:c.523_546dup	NP_001161860.1:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
NM_001168389.2:c.538_561dup	NP_001161861.2:p.Ser187_Ser188insThrProGlyGlySerGlySerSer
NM_006079.4:c.523_546dup	NP_006070.2:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
NM_006079.5:c.523_546dup MANE Select	NP_006070.2:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
NM_001168388.3:c.523_546dup	NP_001161860.1:p.Ser182_Ser183insThrProGlyGlySerGlySerSer
NM_001168389.3:c.538_561dup	NP_001161861.2:p.Ser187_Ser188insThrProGlyGlySerGlySerSer