Canonical Allele Identifier: CA1112367592
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1806337472
gnomAD v4: 8-30786161-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786161T>G , CM000670.2:g.30786161T>G GRCh38
NC_000008.10:g.30643677T>G , CM000670.1:g.30643677T>G GRCh37
NC_000008.9:g.30763219T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*74A>C MANE Select ENSP00000221138.4:n.*74A>C
ENST00000221138.8:c.*74A>C ENSP00000221138.4:n.*74A>C
ENST00000518532.1:n.514A>C
ENST00000518564.1:c.142-172A>C ENSP00000428142.1:n.142-172A>C
ENST00000522113.1:n.204A>C
ENST00000523023.1:c.181+50A>C
NM_001009552.1:c.*74A>C NP_001009552.1:n.*74A>C
NM_001009552.2:c.*74A>C MANE Select NP_001009552.1:n.*74A>C