Canonical Allele Identifier: CA16618135

Gene: PPP2R2B

Linked Data

• ClinVar Variation Id: 423550
• ClinVar RCV Id: RCV000484495 ; RCV001249300
• dbSNP Id: rs1064796487
• MyVariant Identifiers: chr5:g.146077548T>C (hg19) ; chr5:g.146697985T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146697985T>C , CM000667.2:g.146697985T>C	GRCh38
NC_000005.9:g.146077548T>C , CM000667.1:g.146077548T>C	GRCh37
NC_000005.8:g.146057741T>C	NCBI36
NG_011570.1:g.388486A>G
NG_011570.2:g.388486A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394411.9:c.328A>G MANE Select	ENSP00000377933.3:p.Thr110Ala
ENST00000336640.10:c.337A>G	ENSP00000336591.6:p.Thr113Ala
ENST00000394409.7:c.328A>G	ENSP00000377931.4:p.Thr110Ala
ENST00000394411.8:c.328A>G	ENSP00000377933.3:p.Thr110Ala
ENST00000394413.7:c.502A>G	ENSP00000377935.4:p.Thr168Ala
ENST00000394414.5:c.526A>G	ENSP00000377936.1:p.Thr176Ala
ENST00000453001.5:c.295A>G	ENSP00000398779.2:p.Thr99Ala
ENST00000504198.5:c.346A>G	ENSP00000421396.1:p.Thr116Ala
ENST00000508545.6:c.295A>G	ENSP00000431320.1:p.Thr99Ala
ENST00000512639.5:c.*278A>G	ENSP00000426599.1:n.*278A>G
ENST00000522831.1:n.353-47261A>G
ENST00000528601.5:c.*278A>G	ENSP00000433890.1:n.*278A>G
ENST00000530902.5:n.646A>G
NM_001271899.1:c.346A>G	NP_001258828.1:p.Thr116Ala
NM_001271900.1:c.502A>G	NP_001258829.1:p.Thr168Ala
NM_001271948.1:c.295A>G	NP_001258877.1:p.Thr99Ala
NM_181674.2:c.526A>G	NP_858060.2:p.Thr176Ala
NM_181675.3:c.646A>G	NP_858061.2:p.Thr216Ala
NM_181676.2:c.337A>G	NP_858062.1:p.Thr113Ala
NM_181677.2:c.268A>G	NP_858063.1:p.Thr90Ala
NM_181678.2:c.295A>G	NP_858064.1:p.Thr99Ala
NR_073526.1:n.1042A>G
NR_073527.1:n.679A>G
NM_001271900.2:c.502A>G	NP_001258829.1:p.Thr168Ala
NR_073526.2:n.1014A>G
NM_001271948.2:c.295A>G	NP_001258877.1:p.Thr99Ala
NM_181674.3:c.526A>G	NP_858060.2:p.Thr176Ala
NM_181675.4:c.328A>G MANE Select	NP_858061.3:p.Thr110Ala
NM_181676.3:c.337A>G	NP_858062.1:p.Thr113Ala
NR_073527.2:n.509A>G