Canonical Allele Identifier: CA2680562559

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373398-A-AGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373404_139373406dup , CM000668.2:g.139373404_139373406dup	GRCh38
NC_000006.11:g.139694541_139694543dup , CM000668.1:g.139694541_139694543dup	GRCh37
NC_000006.10:g.139736234_139736236dup	NCBI36
NG_016169.1:g.6248_6250dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.544_546dup MANE Select	ENSP00000356623.2:p.Ser182_Ser183insSer
ENST00000367651.3:c.544_546dup	ENSP00000356623.2:p.Ser182_Ser183insSer
ENST00000536159.2:c.544_546dup	ENSP00000442831.1:p.Ser182_Ser183insSer
ENST00000537332.2:c.559_561dup	ENSP00000444198.2:p.Ser187_Ser188insSer
ENST00000618718.1:c.476+68_476+70dup	ENSP00000479918.1:n.476+68_476+70dup
NM_001168388.2:c.544_546dup	NP_001161860.1:p.Ser182_Ser183insSer
NM_001168389.2:c.559_561dup	NP_001161861.2:p.Ser187_Ser188insSer
NM_006079.4:c.544_546dup	NP_006070.2:p.Ser182_Ser183insSer
NM_006079.5:c.544_546dup MANE Select	NP_006070.2:p.Ser182_Ser183insSer
NM_001168388.3:c.544_546dup	NP_001161860.1:p.Ser182_Ser183insSer
NM_001168389.3:c.559_561dup	NP_001161861.2:p.Ser187_Ser188insSer