Canonical Allele Identifier: CA2680562482
Gene: CITED2 HGNC NCBI

Linked Data

gnomAD v4: 6-139373000-G-GT
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139373003dup , CM000668.2:g.139373003dup GRCh38
NC_000006.11:g.139694140dup , CM000668.1:g.139694140dup GRCh37
NC_000006.10:g.139735833dup NCBI36
NG_016169.1:g.6648dup

Transcript Alleles

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