Canonical Allele Identifier: CA174837065
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1044
gnomAD v4: 8-30786187-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786187A>T , CM000670.2:g.30786187A>T GRCh38
NC_000008.10:g.30643703A>T , CM000670.1:g.30643703A>T GRCh37
NC_000008.9:g.30763245A>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*48T>A MANE Select ENSP00000221138.4:n.*48T>A
ENST00000221138.8:c.*48T>A ENSP00000221138.4:n.*48T>A
ENST00000518532.1:n.488T>A
ENST00000518564.1:c.142-198T>A ENSP00000428142.1:n.142-198T>A
ENST00000522113.1:n.178T>A
ENST00000523023.1:c.181+24T>A
NM_001009552.1:c.*48T>A NP_001009552.1:n.*48T>A
NM_001009552.2:c.*48T>A MANE Select NP_001009552.1:n.*48T>A