Canonical Allele Identifier: CA4701872
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs11996580
gnomAD v2: 8-30643737-T-G
gnomAD v3: 8-30786221-T-G
gnomAD v4: 8-30786221-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786221T>G , CM000670.2:g.30786221T>G GRCh38
NC_000008.10:g.30643737T>G , CM000670.1:g.30643737T>G GRCh37
NC_000008.9:g.30763279T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*14A>C MANE Select ENSP00000221138.4:n.*14A>C
ENST00000221138.8:c.*14A>C ENSP00000221138.4:n.*14A>C
ENST00000518532.1:n.454A>C
ENST00000518564.1:c.142-232A>C ENSP00000428142.1:n.142-232A>C
ENST00000522113.1:n.144A>C
ENST00000523023.1:c.171A>C
NM_001009552.1:c.*14A>C NP_001009552.1:n.*14A>C
NM_001009552.2:c.*14A>C MANE Select NP_001009552.1:n.*14A>C