Canonical Allele Identifier: CA850683811
Gene: PPP2CB HGNC NCBI

Linked Data

dbSNP Id: rs1285126762
gnomAD v4: 8-30786112-C-A
MyVariant Identifiers: chr8:g.30643628C>A (hg19) chr8:g.30786112C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.30786112C>A , CM000670.2:g.30786112C>A GRCh38
NC_000008.10:g.30643628C>A , CM000670.1:g.30643628C>A GRCh37
NC_000008.9:g.30763170C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000221138.9:c.*123G>T MANE Select ENSP00000221138.4:n.*123G>T
ENST00000221138.8:c.*123G>T ENSP00000221138.4:n.*123G>T
ENST00000518532.1:n.563G>T
ENST00000518564.1:c.142-123G>T ENSP00000428142.1:n.142-123G>T
ENST00000523023.1:c.181+99G>T
NM_001009552.1:c.*123G>T NP_001009552.1:n.*123G>T
NM_001009552.2:c.*123G>T MANE Select NP_001009552.1:n.*123G>T
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