Canonical Allele Identifier: CA4025581

Gene: CITED2

Linked Data

• dbSNP Id: rs780870084
• ExAC: 6:139694511 TGCTGCTGCCCGCGCCGCCGCCCGA / T
• gnomAD v2: 6-139694511-TGCTGCTGCCCGCGCCGCCGCCCGA-T
• gnomAD v3: 6-139373374-TGCTGCTGCCCGCGCCGCCGCCCGA-T
• gnomAD v4: 6-139373374-TGCTGCTGCCCGCGCCGCCGCCCGA-T
• MyVariant Identifiers: chr6:g.139694512_139694535del (hg19) ; chr6:g.139373376_139373399del (hg38) ; chr6:g.139373375_139373398del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373384_139373407del , CM000668.2:g.139373384_139373407del	GRCh38
NC_000006.11:g.139694521_139694544del , CM000668.1:g.139694521_139694544del	GRCh37
NC_000006.10:g.139736214_139736237del	NCBI36
NG_016169.1:g.6251_6274del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.547_570del MANE Select	ENSP00000356623.2:p.Ser183_Ser190del
ENST00000367651.3:c.547_570del	ENSP00000356623.2:p.Ser183_Ser190del
ENST00000536159.2:c.547_570del	ENSP00000442831.1:p.Ser183_Ser190del
ENST00000537332.2:c.562_585del	ENSP00000444198.2:p.Ser188_Ser195del
ENST00000618718.1:c.476+71_477-78del	ENSP00000479918.1:n.476+71_477-78del
NM_001168388.2:c.547_570del	NP_001161860.1:p.Ser183_Ser190del
NM_001168389.2:c.562_585del	NP_001161861.2:p.Ser188_Ser195del
NM_006079.4:c.547_570del	NP_006070.2:p.Ser183_Ser190del
NM_006079.5:c.547_570del MANE Select	NP_006070.2:p.Ser183_Ser190del
NM_001168388.3:c.547_570del	NP_001161860.1:p.Ser183_Ser190del
NM_001168389.3:c.562_585del	NP_001161861.2:p.Ser188_Ser195del