Canonical Allele Identifier: CA407184736
Community Standard Title: NM_014225.6(PPP2R1A):c.737C>G (p.Pro246Arg)
Gene: PPP2R1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.52213040C>G , CM000681.2:g.52213040C>G GRCh38
NC_000019.9:g.52716293C>G , CM000681.1:g.52716293C>G GRCh37
NC_000019.8:g.57408105C>G NCBI36
NG_047068.1:g.28239C>G

Transcript Alleles

HGVS Amino-acid Change
NM_014225.6:c.737C>G MANE Select NP_055040.2:p.Pro246Arg
ENST00000322088.11:c.737C>G MANE Select ENSP00000324804.6:p.Pro246Arg
NM_001363656.1:c.200C>G NP_001350585.1:p.Pro67Arg
NM_001363656.2:c.200C>G NP_001350585.1:p.Pro67Arg
NM_014225.5:c.737C>G NP_055040.2:p.Pro246Arg
NR_033500.1:n.931C>G
NR_033500.2:n.681C>G
ENST00000322088.10:c.737C>G ENSP00000324804.6:p.Pro246Arg
ENST00000454220.6:c.857C>G ENSP00000391905.2:p.Pro286Arg
ENST00000454220.7:c.857C>G ENSP00000391905.3:p.Pro286Arg
ENST00000462047.1:n.428C>G
ENST00000462990.5:c.200C>G ENSP00000470504.1:p.Pro67Arg
ENST00000473820.1:n.211C>G
ENST00000703395.1:c.200C>G ENSP00000515286.1:p.Pro67Arg
ENST00000703397.1:c.200C>G ENSP00000515287.1:p.Pro67Arg
ENST00000703398.1:c.779C>G ENSP00000515288.1:p.Pro260Arg
ENST00000703401.1:c.23C>G ENSP00000515289.1:p.Pro8Arg
ENST00000703421.1:n.1011C>G
ENST00000703422.1:c.713C>G ENSP00000515292.1:p.Pro238Arg
ENST00000703423.1:c.200C>G ENSP00000515293.1:p.Pro67Arg