Canonical Allele Identifier: CA2686824423
Gene: PPP2CB HGNC NCBI

Linked Data

gnomAD v4: 8-30786091-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786091G>T , CM000670.2:g.30786091G>T GRCh38
NC_000008.10:g.30643607G>T , CM000670.1:g.30643607G>T GRCh37
NC_000008.9:g.30763149G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*144C>A MANE Select ENSP00000221138.4:n.*144C>A
ENST00000221138.8:c.*144C>A ENSP00000221138.4:n.*144C>A
ENST00000518564.1:c.142-102C>A ENSP00000428142.1:n.142-102C>A
ENST00000523023.1:c.181+120C>A
NM_001009552.1:c.*144C>A NP_001009552.1:n.*144C>A
NM_001009552.2:c.*144C>A MANE Select NP_001009552.1:n.*144C>A