Canonical Allele Identifier: CA2680562557

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373386-CGCCGCCGCCCGAGCTGCTGCCAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373394_139373417del , CM000668.2:g.139373394_139373417del	GRCh38
NC_000006.11:g.139694531_139694554del , CM000668.1:g.139694531_139694554del	GRCh37
NC_000006.10:g.139736224_139736247del	NCBI36
NG_016169.1:g.6239_6262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.535_558del MANE Select	ENSP00000356623.2:p.Ser179_Gly186del
ENST00000367651.3:c.535_558del	ENSP00000356623.2:p.Ser179_Gly186del
ENST00000536159.2:c.535_558del	ENSP00000442831.1:p.Ser179_Gly186del
ENST00000537332.2:c.550_573del	ENSP00000444198.2:p.Ser184_Gly191del
ENST00000618718.1:c.476+59_476+82del	ENSP00000479918.1:n.476+59_476+82del
NM_001168388.2:c.535_558del	NP_001161860.1:p.Ser179_Gly186del
NM_001168389.2:c.550_573del	NP_001161861.2:p.Ser184_Gly191del
NM_006079.4:c.535_558del	NP_006070.2:p.Ser179_Gly186del
NM_006079.5:c.535_558del MANE Select	NP_006070.2:p.Ser179_Gly186del
NM_001168388.3:c.535_558del	NP_001161860.1:p.Ser179_Gly186del
NM_001168389.3:c.550_573del	NP_001161861.2:p.Ser184_Gly191del