Canonical Allele Identifier: CA16604713

Gene: PPP2R2B

Linked Data

• ClinVar Variation Id: 392571
• ClinVar RCV Id: RCV000437543
• dbSNP Id: rs778233469
• MyVariant Identifiers: chr5:g.145969652C>G (hg19) ; chr5:g.146590089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146590089C>G , CM000667.2:g.146590089C>G	GRCh38
NC_000005.9:g.145969652C>G , CM000667.1:g.145969652C>G	GRCh37
NC_000005.8:g.145949845C>G	NCBI36
NG_011570.1:g.496382G>C
NG_011570.2:g.496382G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000394411.9:c.1190G>C MANE Select	ENSP00000377933.3:p.Gly397Ala
ENST00000336640.10:c.1199G>C	ENSP00000336591.6:p.Gly400Ala
ENST00000394409.7:c.1190G>C	ENSP00000377931.4:p.Gly397Ala
ENST00000394411.8:c.1190G>C	ENSP00000377933.3:p.Gly397Ala
ENST00000394413.7:c.1364G>C	ENSP00000377935.4:p.Gly455Ala
ENST00000394414.5:c.1388G>C	ENSP00000377936.1:p.Gly463Ala
ENST00000453001.5:c.1157G>C	ENSP00000398779.2:p.Gly386Ala
ENST00000504198.5:c.1208G>C	ENSP00000421396.1:p.Gly403Ala
ENST00000508545.6:c.1157G>C	ENSP00000431320.1:p.Gly386Ala
ENST00000512639.5:c.*1140G>C	ENSP00000426599.1:n.*1140G>C
ENST00000512984.1:c.461G>C
ENST00000530902.5:n.1508G>C
NM_001271899.1:c.1208G>C	NP_001258828.1:p.Gly403Ala
NM_001271900.1:c.1364G>C	NP_001258829.1:p.Gly455Ala
NM_001271948.1:c.1157G>C	NP_001258877.1:p.Gly386Ala
NM_181674.2:c.1388G>C	NP_858060.2:p.Gly463Ala
NM_181675.3:c.1508G>C	NP_858061.2:p.Gly503Ala
NM_181676.2:c.1199G>C	NP_858062.1:p.Gly400Ala
NM_181677.2:c.1130G>C	NP_858063.1:p.Gly377Ala
NM_181678.2:c.1157G>C	NP_858064.1:p.Gly386Ala
NR_073526.1:n.1904G>C
NR_073527.1:n.1541G>C
XR_944387.1:n.312-16880C>G
XR_944388.1:n.312-16880C>G
XR_001742916.2:n.190-16880C>G
XR_001742917.2:n.1137-16880C>G
XR_001742918.2:n.1137-16880C>G
XR_001742919.2:n.1137-16880C>G
XR_002956249.1:n.1137-16880C>G
XR_944387.2:n.1137-16880C>G
NM_001271900.2:c.1364G>C	NP_001258829.1:p.Gly455Ala
NR_073526.2:n.1876G>C
NM_001271948.2:c.1157G>C	NP_001258877.1:p.Gly386Ala
NM_181674.3:c.1388G>C	NP_858060.2:p.Gly463Ala
NM_181675.4:c.1190G>C MANE Select	NP_858061.3:p.Gly397Ala
NM_181676.3:c.1199G>C	NP_858062.1:p.Gly400Ala
NR_073527.2:n.1371G>C