Canonical Allele Identifier: CA2686824466
Gene: PPP2CB HGNC NCBI

Linked Data

gnomAD v4: 8-30786149-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786149T>C , CM000670.2:g.30786149T>C GRCh38
NC_000008.10:g.30643665T>C , CM000670.1:g.30643665T>C GRCh37
NC_000008.9:g.30763207T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*86A>G MANE Select ENSP00000221138.4:n.*86A>G
ENST00000221138.8:c.*86A>G ENSP00000221138.4:n.*86A>G
ENST00000518532.1:n.526A>G
ENST00000518564.1:c.142-160A>G ENSP00000428142.1:n.142-160A>G
ENST00000522113.1:n.216A>G
ENST00000523023.1:c.181+62A>G
NM_001009552.1:c.*86A>G NP_001009552.1:n.*86A>G
NM_001009552.2:c.*86A>G MANE Select NP_001009552.1:n.*86A>G
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