Canonical Allele Identifier: CA2686824469
Gene: PPP2CB HGNC NCBI

Linked Data

gnomAD v4: 8-30786160-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786160T>C , CM000670.2:g.30786160T>C GRCh38
NC_000008.10:g.30643676T>C , CM000670.1:g.30643676T>C GRCh37
NC_000008.9:g.30763218T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*75A>G MANE Select ENSP00000221138.4:n.*75A>G
ENST00000221138.8:c.*75A>G ENSP00000221138.4:n.*75A>G
ENST00000518532.1:n.515A>G
ENST00000518564.1:c.142-171A>G ENSP00000428142.1:n.142-171A>G
ENST00000522113.1:n.205A>G
ENST00000523023.1:c.181+51A>G
NM_001009552.1:c.*75A>G NP_001009552.1:n.*75A>G
NM_001009552.2:c.*75A>G MANE Select NP_001009552.1:n.*75A>G
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