Canonical Allele Identifier: CA819732379

Gene: CITED2

Linked Data

• dbSNP Id: rs750037589
• gnomAD v4: 6-139373398-AGCTGCTGCCAGAGCCGCCGGGGGT-A
• MyVariant Identifiers: chr6:g.139694536_139694559del (hg19) ; chr6:g.139373399_139373422del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373408_139373431del , CM000668.2:g.139373408_139373431del	GRCh38
NC_000006.11:g.139694545_139694568del , CM000668.1:g.139694545_139694568del	GRCh37
NC_000006.10:g.139736238_139736261del	NCBI36
NG_016169.1:g.6227_6250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.523_546del MANE Select	ENSP00000356623.2:p.Thr175_Ser182del
ENST00000367651.3:c.523_546del	ENSP00000356623.2:p.Thr175_Ser182del
ENST00000536159.2:c.523_546del	ENSP00000442831.1:p.Thr175_Ser182del
ENST00000537332.2:c.538_561del	ENSP00000444198.2:p.Thr180_Ser187del
ENST00000618718.1:c.476+47_476+70del	ENSP00000479918.1:n.476+47_476+70del
NM_001168388.2:c.523_546del	NP_001161860.1:p.Thr175_Ser182del
NM_001168389.2:c.538_561del	NP_001161861.2:p.Thr180_Ser187del
NM_006079.4:c.523_546del	NP_006070.2:p.Thr175_Ser182del
NM_006079.5:c.523_546del MANE Select	NP_006070.2:p.Thr175_Ser182del
NM_001168388.3:c.523_546del	NP_001161860.1:p.Thr175_Ser182del
NM_001168389.3:c.538_561del	NP_001161861.2:p.Thr180_Ser187del