Canonical Allele Identifier: CA850683795
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1261196310
gnomAD v4: 8-30786094-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786094C>T , CM000670.2:g.30786094C>T GRCh38
NC_000008.10:g.30643610C>T , CM000670.1:g.30643610C>T GRCh37
NC_000008.9:g.30763152C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*141G>A MANE Select ENSP00000221138.4:n.*141G>A
ENST00000221138.8:c.*141G>A ENSP00000221138.4:n.*141G>A
ENST00000518564.1:c.142-105G>A ENSP00000428142.1:n.142-105G>A
ENST00000523023.1:c.181+117G>A
NM_001009552.1:c.*141G>A NP_001009552.1:n.*141G>A
NM_001009552.2:c.*141G>A MANE Select NP_001009552.1:n.*141G>A