Canonical Allele Identifier: CA1667371968
Gene: CITED2 HGNC NCBI

Linked Data

dbSNP Id: rs1583066120
gnomAD v4: 6-139372719-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.139372719G>T , CM000668.2:g.139372719G>T GRCh38
NC_000006.11:g.139693856G>T , CM000668.1:g.139693856G>T GRCh37
NC_000006.10:g.139735549G>T NCBI36
NG_016169.1:g.6930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000367651.4:c.*413C>A MANE Select ENSP00000356623.2:n.*413C>A
ENST00000367651.3:c.*413C>A ENSP00000356623.2:n.*413C>A
ENST00000536159.2:c.*413C>A ENSP00000442831.1:n.*413C>A
ENST00000537332.2:c.*413C>A ENSP00000444198.2:n.*413C>A
NM_001168388.2:c.*413C>A NP_001161860.1:n.*413C>A
NM_001168389.2:c.*413C>A NP_001161861.2:n.*413C>A
NM_006079.4:c.*413C>A NP_006070.2:n.*413C>A
NM_006079.5:c.*413C>A MANE Select NP_006070.2:n.*413C>A
NM_001168388.3:c.*413C>A NP_001161860.1:n.*413C>A
NM_001168389.3:c.*413C>A NP_001161861.2:n.*413C>A
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