Canonical Allele Identifier: CA2686824442
Gene: PPP2CB HGNC NCBI

Linked Data

gnomAD v4: 8-30786118-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786118C>A , CM000670.2:g.30786118C>A GRCh38
NC_000008.10:g.30643634C>A , CM000670.1:g.30643634C>A GRCh37
NC_000008.9:g.30763176C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*117G>T MANE Select ENSP00000221138.4:n.*117G>T
ENST00000221138.8:c.*117G>T ENSP00000221138.4:n.*117G>T
ENST00000518532.1:n.557G>T
ENST00000518564.1:c.142-129G>T ENSP00000428142.1:n.142-129G>T
ENST00000523023.1:c.181+93G>T
NM_001009552.1:c.*117G>T NP_001009552.1:n.*117G>T
NM_001009552.2:c.*117G>T MANE Select NP_001009552.1:n.*117G>T