Canonical Allele Identifier: CA4025574

Gene: CITED2

Linked Data

• ClinVar Variation Id: 1684895
• ClinVar RCV Id: RCV002247987 ; RCV003903635
• dbSNP Id: rs751501072
• ExAC: 6:139694502 CGCCGCT / C
• gnomAD v2: 6-139694502-CGCCGCT-C
• gnomAD v3: 6-139373365-CGCCGCT-C
• gnomAD v4: 6-139373365-CGCCGCT-C
• MyVariant Identifiers: chr6:g.139694503_139694508del (hg19) ; chr6:g.139373366_139373371del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373367_139373372del , CM000668.2:g.139373367_139373372del	GRCh38
NC_000006.11:g.139694504_139694509del , CM000668.1:g.139694504_139694509del	GRCh37
NC_000006.10:g.139736197_139736202del	NCBI36
NG_016169.1:g.6278_6283del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.574_579del MANE Select	ENSP00000356623.2:p.Ser192_Gly193del
ENST00000367651.3:c.574_579del	ENSP00000356623.2:p.Ser192_Gly193del
ENST00000536159.2:c.574_579del	ENSP00000442831.1:p.Ser192_Gly193del
ENST00000537332.2:c.589_594del	ENSP00000444198.2:p.Ser197_Gly198del
ENST00000618718.1:c.477-74_477-69del	ENSP00000479918.1:n.477-74_477-69del
NM_001168388.2:c.574_579del	NP_001161860.1:p.Ser192_Gly193del
NM_001168389.2:c.589_594del	NP_001161861.2:p.Ser197_Gly198del
NM_006079.4:c.574_579del	NP_006070.2:p.Ser192_Gly193del
NM_006079.5:c.574_579del MANE Select	NP_006070.2:p.Ser192_Gly193del
NM_001168388.3:c.574_579del	NP_001161860.1:p.Ser192_Gly193del
NM_001168389.3:c.589_594del	NP_001161861.2:p.Ser197_Gly198del