Canonical Allele Identifier: CA174837021
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1021262873
gnomAD v3: 8-30786130-T-C
gnomAD v4: 8-30786130-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786130T>C , CM000670.2:g.30786130T>C GRCh38
NC_000008.10:g.30643646T>C , CM000670.1:g.30643646T>C GRCh37
NC_000008.9:g.30763188T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*105A>G MANE Select ENSP00000221138.4:n.*105A>G
ENST00000221138.8:c.*105A>G ENSP00000221138.4:n.*105A>G
ENST00000518532.1:n.545A>G
ENST00000518564.1:c.142-141A>G ENSP00000428142.1:n.142-141A>G
ENST00000522113.1:n.235A>G
ENST00000523023.1:c.181+81A>G
NM_001009552.1:c.*105A>G NP_001009552.1:n.*105A>G
NM_001009552.2:c.*105A>G MANE Select NP_001009552.1:n.*105A>G