Canonical Allele Identifier: CA174837044
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs988599143
gnomAD v3: 8-30786145-T-C
gnomAD v4: 8-30786145-T-C
MyVariant Identifiers: chr8:g.30643661T>C (hg19) chr8:g.30786145T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786145T>C , CM000670.2:g.30786145T>C GRCh38
NC_000008.10:g.30643661T>C , CM000670.1:g.30643661T>C GRCh37
NC_000008.9:g.30763203T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*90A>G MANE Select ENSP00000221138.4:n.*90A>G
ENST00000221138.8:c.*90A>G ENSP00000221138.4:n.*90A>G
ENST00000518532.1:n.530A>G
ENST00000518564.1:c.142-156A>G ENSP00000428142.1:n.142-156A>G
ENST00000522113.1:n.220A>G
ENST00000523023.1:c.181+66A>G
NM_001009552.1:c.*90A>G NP_001009552.1:n.*90A>G
NM_001009552.2:c.*90A>G MANE Select NP_001009552.1:n.*90A>G
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