Canonical Allele Identifier: CA850683871
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1272568853
gnomAD v3: 8-30786200-C-T
gnomAD v4: 8-30786200-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786200C>T , CM000670.2:g.30786200C>T GRCh38
NC_000008.10:g.30643716C>T , CM000670.1:g.30643716C>T GRCh37
NC_000008.9:g.30763258C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*35G>A MANE Select ENSP00000221138.4:n.*35G>A
ENST00000221138.8:c.*35G>A ENSP00000221138.4:n.*35G>A
ENST00000518532.1:n.475G>A
ENST00000518564.1:c.142-211G>A ENSP00000428142.1:n.142-211G>A
ENST00000522113.1:n.165G>A
ENST00000523023.1:c.181+11G>A
NM_001009552.1:c.*35G>A NP_001009552.1:n.*35G>A
NM_001009552.2:c.*35G>A MANE Select NP_001009552.1:n.*35G>A