Canonical Allele Identifier: CA819731401

Gene: CITED2

Linked Data

• dbSNP Id: rs1349330343
• gnomAD v3: 6-139372873-A-AC
• gnomAD v4: 6-139372873-A-AC
• MyVariant Identifiers: chr6:g.139694010_139694011insC (hg19) ; chr6:g.139372873_139372874insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372875dup , CM000668.2:g.139372875dup	GRCh38
NC_000006.11:g.139694012dup , CM000668.1:g.139694012dup	GRCh37
NC_000006.10:g.139735705dup	NCBI36
NG_016169.1:g.6775dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*258dup MANE Select	ENSP00000356623.2:n.*258dup
ENST00000367651.3:c.*258dup	ENSP00000356623.2:n.*258dup
ENST00000536159.2:c.*258dup	ENSP00000442831.1:n.*258dup
ENST00000537332.2:c.*258dup	ENSP00000444198.2:n.*258dup
NM_001168388.2:c.*258dup	NP_001161860.1:n.*258dup
NM_001168389.2:c.*258dup	NP_001161861.2:n.*258dup
NM_006079.4:c.*258dup	NP_006070.2:n.*258dup
NM_006079.5:c.*258dup MANE Select	NP_006070.2:n.*258dup
NM_001168388.3:c.*258dup	NP_001161860.1:n.*258dup
NM_001168389.3:c.*258dup	NP_001161861.2:n.*258dup