Canonical Allele Identifier: CA2680562395
Gene: CITED2 HGNC NCBI

Linked Data

gnomAD v4: 6-139372916-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372916A>T , CM000668.2:g.139372916A>T GRCh38
NC_000006.11:g.139694053A>T , CM000668.1:g.139694053A>T GRCh37
NC_000006.10:g.139735746A>T NCBI36
NG_016169.1:g.6733T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*216T>A MANE Select ENSP00000356623.2:n.*216T>A
ENST00000367651.3:c.*216T>A ENSP00000356623.2:n.*216T>A
ENST00000536159.2:c.*216T>A ENSP00000442831.1:n.*216T>A
ENST00000537332.2:c.*216T>A ENSP00000444198.2:n.*216T>A
NM_001168388.2:c.*216T>A NP_001161860.1:n.*216T>A
NM_001168389.2:c.*216T>A NP_001161861.2:n.*216T>A
NM_006079.4:c.*216T>A NP_006070.2:n.*216T>A
NM_006079.5:c.*216T>A MANE Select NP_006070.2:n.*216T>A
NM_001168388.3:c.*216T>A NP_001161860.1:n.*216T>A
NM_001168389.3:c.*216T>A NP_001161861.2:n.*216T>A
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