Canonical Allele Identifier: CA249260

Gene: PPP2R2B

Linked Data

• ClinVar Variation Id: 218860
• ClinVar RCV Id: RCV000203056 ; RCV004553108
• dbSNP Id: rs10591869
• gnomAD v2: 5-146258290-A-AGCTGCTGCTGCTGCT
• gnomAD v3: 5-146878727-A-AGCTGCTGCTGCTGCT
• gnomAD v4: 5-146878727-A-AGCTGCTGCTGCTGCT
• MyVariant Identifiers: chr5:g.146258291_146258305dupGCTGCTGCTGCTGCT (hg19) ; chr5:g.146258293_146258294insGCTGCTGCTGCTGCT (hg19) ; chr5:g.146258290_146258291insGCTGCTGCTGCTGCT (hg19) ; chr5:g.146878728_146878742dupGCTGCTGCTGCTGCT (hg38) ; chr5:g.146878730_146878731insGCTGCTGCTGCTGCT (hg38) ; chr5:g.146878727_146878728insGCTGCTGCTGCTGCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.146878745_146878759dup , CM000667.2:g.146878745_146878759dup	GRCh38
NC_000005.9:g.146258308_146258322dup , CM000667.1:g.146258308_146258322dup	GRCh37
NC_000005.8:g.146238501_146238515dup	NCBI36
NG_011570.1:g.207729_207743dup
NG_011570.2:g.207729_207743dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336640.10:c.79+176923_79+176937dup	ENSP00000336591.6:n.79+176923_79+176937dup
ENST00000394411.8:c.-276_-262dup	ENSP00000377933.3:n.-276_-262dup
ENST00000394413.7:c.51-547_51-533dup	ENSP00000377935.4:n.51-547_51-533dup
ENST00000394414.5:c.75-547_75-533dup	ENSP00000377936.1:n.75-547_75-533dup
ENST00000453001.5:c.-789_-775dup	ENSP00000398779.2:n.-789_-775dup
ENST00000502876.1:n.362+40942_362+40956dup
ENST00000504198.5:c.89-177600_89-177586dup	ENSP00000421396.1:n.89-177600_89-177586dup
ENST00000504565.1:c.11-547_11-533dup	ENSP00000425413.1:n.11-547_11-533dup
ENST00000508267.5:c.10+156427_10+156441dup	ENSP00000421224.1:n.10+156427_10+156441dup
ENST00000508545.6:c.-48-22159_-48-22145dup	ENSP00000431320.1:n.-48-22159_-48-22145dup
ENST00000509721.1:n.281-547_281-533dup
ENST00000512011.5:c.*18+161975_*18+161989dup	ENSP00000424409.1:n.*18+161975_*18+161989dup
ENST00000515880.5:c.*27+175856_*27+175870dup	ENSP00000421577.1:n.*27+175856_*27+175870dup
ENST00000520231.1:n.198+43583_198+43597dup
ENST00000522831.1:n.268-22159_268-22145dup
ENST00000528601.5:c.-125+390_-125+404dup	ENSP00000433890.1:n.-125+390_-125+404dup
ENST00000530902.5:n.153_167dup
ENST00000532154.5:c.-166_-152dup	ENSP00000434497.1:n.-166_-152dup
NM_001271899.1:c.89-177600_89-177586dup	NP_001258828.1:n.89-177600_89-177586dup
NM_001271900.1:c.51-547_51-533dup	NP_001258829.1:n.51-547_51-533dup
NM_001271948.1:c.-789_-775dup	NP_001258877.1:n.-789_-775dup
NM_181674.2:c.75-547_75-533dup	NP_858060.2:n.75-547_75-533dup
NM_181675.3:c.43_57dup	NP_858061.2:p.Ser19_Cys20insSerSerSerSerSer
NM_181676.2:c.79+176923_79+176937dup	NP_858062.1:n.79+176923_79+176937dup
NM_181677.2:c.10+156427_10+156441dup	NP_858063.1:n.10+156427_10+156441dup
NM_181678.2:c.-48-22159_-48-22145dup	NP_858064.1:n.-48-22159_-48-22145dup
NR_073526.1:n.44_58dup
NR_073527.1:n.186_200dup
NM_001271900.2:c.51-547_51-533dup	NP_001258829.1:n.51-547_51-533dup
NM_181674.3:c.75-547_75-533dup	NP_858060.2:n.75-547_75-533dup
NM_181676.3:c.79+176923_79+176937dup	NP_858062.1:n.79+176923_79+176937dup