Canonical Allele Identifier: CA148813743

Gene: CITED2

Linked Data

• dbSNP Id: rs967660570
• gnomAD v3: 6-139372901-TAAGG-T
• gnomAD v4: 6-139372901-TAAGG-T
• MyVariant Identifiers: chr6:g.139694039_139694042del (hg19) ; chr6:g.139372902_139372905del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372902_139372905del , CM000668.2:g.139372902_139372905del	GRCh38
NC_000006.11:g.139694039_139694042del , CM000668.1:g.139694039_139694042del	GRCh37
NC_000006.10:g.139735732_139735735del	NCBI36
NG_016169.1:g.6744_6747del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*227_*230del MANE Select	ENSP00000356623.2:n.*227_*230del
ENST00000367651.3:c.*227_*230del	ENSP00000356623.2:n.*227_*230del
ENST00000536159.2:c.*227_*230del	ENSP00000442831.1:n.*227_*230del
ENST00000537332.2:c.*227_*230del	ENSP00000444198.2:n.*227_*230del
NM_001168388.2:c.*227_*230del	NP_001161860.1:n.*227_*230del
NM_001168389.2:c.*227_*230del	NP_001161861.2:n.*227_*230del
NM_006079.4:c.*227_*230del	NP_006070.2:n.*227_*230del
NM_006079.5:c.*227_*230del MANE Select	NP_006070.2:n.*227_*230del
NM_001168388.3:c.*227_*230del	NP_001161860.1:n.*227_*230del
NM_001168389.3:c.*227_*230del	NP_001161861.2:n.*227_*230del