Canonical Allele Identifier: CA580975765
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1219186948
gnomAD v2: 8-30643707-C-T
gnomAD v3: 8-30786191-C-T
gnomAD v4: 8-30786191-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786191C>T , CM000670.2:g.30786191C>T GRCh38
NC_000008.10:g.30643707C>T , CM000670.1:g.30643707C>T GRCh37
NC_000008.9:g.30763249C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*44G>A MANE Select ENSP00000221138.4:n.*44G>A
ENST00000221138.8:c.*44G>A ENSP00000221138.4:n.*44G>A
ENST00000518532.1:n.484G>A
ENST00000518564.1:c.142-202G>A ENSP00000428142.1:n.142-202G>A
ENST00000522113.1:n.174G>A
ENST00000523023.1:c.181+20G>A
NM_001009552.1:c.*44G>A NP_001009552.1:n.*44G>A
NM_001009552.2:c.*44G>A MANE Select NP_001009552.1:n.*44G>A