Canonical Allele Identifier: CA148813766

Gene: CITED2

Linked Data

• dbSNP Id: rs933883313
• gnomAD v2: 6-139694137-GTTTAC-G
• gnomAD v3: 6-139373000-GTTTAC-G
• gnomAD v4: 6-139373000-GTTTAC-G
• MyVariant Identifiers: chr6:g.139694138_139694142del (hg19) ; chr6:g.139373001_139373005del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139373004_139373008del , CM000668.2:g.139373004_139373008del	GRCh38
NC_000006.11:g.139694141_139694145del , CM000668.1:g.139694141_139694145del	GRCh37
NC_000006.10:g.139735834_139735838del	NCBI36
NG_016169.1:g.6644_6648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*127_*131del MANE Select	ENSP00000356623.2:n.*127_*131del
ENST00000367651.3:c.*127_*131del	ENSP00000356623.2:n.*127_*131del
ENST00000536159.2:c.*127_*131del	ENSP00000442831.1:n.*127_*131del
ENST00000537332.2:c.*127_*131del	ENSP00000444198.2:n.*127_*131del
NM_001168388.2:c.*127_*131del	NP_001161860.1:n.*127_*131del
NM_001168389.2:c.*127_*131del	NP_001161861.2:n.*127_*131del
NM_006079.4:c.*127_*131del	NP_006070.2:n.*127_*131del
NM_006079.5:c.*127_*131del MANE Select	NP_006070.2:n.*127_*131del
NM_001168388.3:c.*127_*131del	NP_001161860.1:n.*127_*131del
NM_001168389.3:c.*127_*131del	NP_001161861.2:n.*127_*131del