Canonical Allele Identifier: CA2680562291
Gene: CITED2 HGNC NCBI

Linked Data

gnomAD v4: 6-139372784-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372784A>G , CM000668.2:g.139372784A>G GRCh38
NC_000006.11:g.139693921A>G , CM000668.1:g.139693921A>G GRCh37
NC_000006.10:g.139735614A>G NCBI36
NG_016169.1:g.6865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*348T>C MANE Select ENSP00000356623.2:n.*348T>C
ENST00000367651.3:c.*348T>C ENSP00000356623.2:n.*348T>C
ENST00000536159.2:c.*348T>C ENSP00000442831.1:n.*348T>C
ENST00000537332.2:c.*348T>C ENSP00000444198.2:n.*348T>C
NM_001168388.2:c.*348T>C NP_001161860.1:n.*348T>C
NM_001168389.2:c.*348T>C NP_001161861.2:n.*348T>C
NM_006079.4:c.*348T>C NP_006070.2:n.*348T>C
NM_006079.5:c.*348T>C MANE Select NP_006070.2:n.*348T>C
NM_001168388.3:c.*348T>C NP_001161860.1:n.*348T>C
NM_001168389.3:c.*348T>C NP_001161861.2:n.*348T>C
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