Canonical Allele Identifier: CA819731429

Gene: CITED2

Linked Data

• dbSNP Id: rs1195309686
• gnomAD v3: 6-139372903-A-AG
• gnomAD v4: 6-139372903-A-AG
• MyVariant Identifiers: chr6:g.139694040_139694041insG (hg19) ; chr6:g.139372903_139372904insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.139372906dup , CM000668.2:g.139372906dup	GRCh38
NC_000006.11:g.139694043dup , CM000668.1:g.139694043dup	GRCh37
NC_000006.10:g.139735736dup	NCBI36
NG_016169.1:g.6745dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367651.4:c.*228dup MANE Select	ENSP00000356623.2:n.*228dup
ENST00000367651.3:c.*228dup	ENSP00000356623.2:n.*228dup
ENST00000536159.2:c.*228dup	ENSP00000442831.1:n.*228dup
ENST00000537332.2:c.*228dup	ENSP00000444198.2:n.*228dup
NM_001168388.2:c.*228dup	NP_001161860.1:n.*228dup
NM_001168389.2:c.*228dup	NP_001161861.2:n.*228dup
NM_006079.4:c.*228dup	NP_006070.2:n.*228dup
NM_006079.5:c.*228dup MANE Select	NP_006070.2:n.*228dup
NM_001168388.3:c.*228dup	NP_001161860.1:n.*228dup
NM_001168389.3:c.*228dup	NP_001161861.2:n.*228dup