Canonical Allele Identifier: CA819731261

Gene: CITED2

Linked Data

• dbSNP Id: rs1411287914
• gnomAD v3: 6-139372711-CAACT-C
• gnomAD v4: 6-139372711-CAACT-C
• MyVariant Identifiers: chr6:g.139693849_139693852del (hg19) ; chr6:g.139372712_139372715del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372714_139372717del , CM000668.2:g.139372714_139372717del	GRCh38
NC_000006.11:g.139693851_139693854del , CM000668.1:g.139693851_139693854del	GRCh37
NC_000006.10:g.139735544_139735547del	NCBI36
NG_016169.1:g.6934_6937del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*417_*420del MANE Select	ENSP00000356623.2:n.*417_*420del
ENST00000367651.3:c.*417_*420del	ENSP00000356623.2:n.*417_*420del
ENST00000536159.2:c.*417_*420del	ENSP00000442831.1:n.*417_*420del
ENST00000537332.2:c.*417_*420del	ENSP00000444198.2:n.*417_*420del
NM_001168388.2:c.*417_*420del	NP_001161860.1:n.*417_*420del
NM_001168389.2:c.*417_*420del	NP_001161861.2:n.*417_*420del
NM_006079.4:c.*417_*420del	NP_006070.2:n.*417_*420del
NM_006079.5:c.*417_*420del MANE Select	NP_006070.2:n.*417_*420del
NM_001168388.3:c.*417_*420del	NP_001161860.1:n.*417_*420del
NM_001168389.3:c.*417_*420del	NP_001161861.2:n.*417_*420del