Canonical Allele Identifier: CA2686824450
Gene: PPP2CB HGNC NCBI

Linked Data

gnomAD v4: 8-30786127-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786127A>G , CM000670.2:g.30786127A>G GRCh38
NC_000008.10:g.30643643A>G , CM000670.1:g.30643643A>G GRCh37
NC_000008.9:g.30763185A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*108T>C MANE Select ENSP00000221138.4:n.*108T>C
ENST00000221138.8:c.*108T>C ENSP00000221138.4:n.*108T>C
ENST00000518532.1:n.548T>C
ENST00000518564.1:c.142-138T>C ENSP00000428142.1:n.142-138T>C
ENST00000523023.1:c.181+84T>C
NM_001009552.1:c.*108T>C NP_001009552.1:n.*108T>C
NM_001009552.2:c.*108T>C MANE Select NP_001009552.1:n.*108T>C
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