Canonical Allele Identifier: CA174837015
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs192973893
gnomAD v2: 8-30643631-A-C
gnomAD v3: 8-30786115-A-C
gnomAD v4: 8-30786115-A-C
MyVariant Identifiers: chr8:g.30643631A>C (hg19) chr8:g.30786115A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786115A>C , CM000670.2:g.30786115A>C GRCh38
NC_000008.10:g.30643631A>C , CM000670.1:g.30643631A>C GRCh37
NC_000008.9:g.30763173A>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*120T>G MANE Select ENSP00000221138.4:n.*120T>G
ENST00000221138.8:c.*120T>G ENSP00000221138.4:n.*120T>G
ENST00000518532.1:n.560T>G
ENST00000518564.1:c.142-126T>G ENSP00000428142.1:n.142-126T>G
ENST00000523023.1:c.181+96T>G
NM_001009552.1:c.*120T>G NP_001009552.1:n.*120T>G
NM_001009552.2:c.*120T>G MANE Select NP_001009552.1:n.*120T>G
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