Canonical Allele Identifier: CA174837070

Gene: PPP2CB

Linked Data

• dbSNP Id: rs373504280
• gnomAD v4: 8-30786195-G-T
• MyVariant Identifiers: chr8:g.30643711G>T (hg19) ; chr8:g.30786195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.30786195G>T , CM000670.2:g.30786195G>T	GRCh38
NC_000008.10:g.30643711G>T , CM000670.1:g.30643711G>T	GRCh37
NC_000008.9:g.30763253G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000221138.9:c.*40C>A MANE Select	ENSP00000221138.4:n.*40C>A
ENST00000221138.8:c.*40C>A	ENSP00000221138.4:n.*40C>A
ENST00000518532.1:n.480C>A
ENST00000518564.1:c.142-206C>A	ENSP00000428142.1:n.142-206C>A
ENST00000522113.1:n.170C>A
ENST00000523023.1:c.181+16C>A
NM_001009552.1:c.*40C>A	NP_001009552.1:n.*40C>A
NM_001009552.2:c.*40C>A MANE Select	NP_001009552.1:n.*40C>A