Canonical Allele Identifier: CA2680562549

Gene: CITED2

Linked Data

• gnomAD v4: 6-139373350-CGCTGCCGCTGCCGCCGCCGCTGTTGCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373357_139373383del , CM000668.2:g.139373357_139373383del	GRCh38
NC_000006.11:g.139694494_139694520del , CM000668.1:g.139694494_139694520del	GRCh37
NC_000006.10:g.139736187_139736213del	NCBI36
NG_016169.1:g.6272_6298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.568_594del MANE Select	ENSP00000356623.2:p.Ser190_Ser198del
ENST00000367651.3:c.568_594del	ENSP00000356623.2:p.Ser190_Ser198del
ENST00000536159.2:c.568_594del	ENSP00000442831.1:p.Ser190_Ser198del
ENST00000537332.2:c.583_609del	ENSP00000444198.2:p.Ser195_Ser203del
ENST00000618718.1:c.477-80_477-54del	ENSP00000479918.1:n.477-80_477-54del
NM_001168388.2:c.568_594del	NP_001161860.1:p.Ser190_Ser198del
NM_001168389.2:c.583_609del	NP_001161861.2:p.Ser195_Ser203del
NM_006079.4:c.568_594del	NP_006070.2:p.Ser190_Ser198del
NM_006079.5:c.568_594del MANE Select	NP_006070.2:p.Ser190_Ser198del
NM_001168388.3:c.568_594del	NP_001161860.1:p.Ser190_Ser198del
NM_001168389.3:c.583_609del	NP_001161861.2:p.Ser195_Ser203del