Canonical Allele Identifier: CA850683839
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1246176283
gnomAD v3: 8-30786150-T-C
gnomAD v4: 8-30786150-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786150T>C , CM000670.2:g.30786150T>C GRCh38
NC_000008.10:g.30643666T>C , CM000670.1:g.30643666T>C GRCh37
NC_000008.9:g.30763208T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000221138.9:c.*85A>G MANE Select ENSP00000221138.4:n.*85A>G
ENST00000221138.8:c.*85A>G ENSP00000221138.4:n.*85A>G
ENST00000518532.1:n.525A>G
ENST00000518564.1:c.142-161A>G ENSP00000428142.1:n.142-161A>G
ENST00000522113.1:n.215A>G
ENST00000523023.1:c.181+61A>G
NM_001009552.1:c.*85A>G NP_001009552.1:n.*85A>G
NM_001009552.2:c.*85A>G MANE Select NP_001009552.1:n.*85A>G