Canonical Allele Identifier: CA309836395

Gene: PPP2R1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.52226117C>T , CM000681.2:g.52226117C>T	GRCh38
NC_000019.9:g.52729370C>T , CM000681.1:g.52729370C>T	GRCh37
NC_000019.8:g.57421182C>T	NCBI36
NG_047068.1:g.41316C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014225.6:c.*136C>T MANE Select	NP_055040.2:n.*136C>T
ENST00000322088.11:c.*136C>T MANE Select	ENSP00000324804.6:n.*136C>T
NM_001363656.1:c.*136C>T	NP_001350585.1:n.*136C>T
NM_001363656.2:c.*136C>T	NP_001350585.1:n.*136C>T
NM_014225.5:c.*136C>T	NP_055040.2:n.*136C>T
NR_033500.1:n.2100C>T
NR_033500.2:n.1850C>T
ENST00000322088.10:c.*136C>T	ENSP00000324804.6:n.*136C>T
ENST00000391791.4:c.695C>T
ENST00000454220.7:c.*136C>T	ENSP00000391905.3:n.*136C>T
ENST00000462990.5:c.*136C>T	ENSP00000470504.1:n.*136C>T
ENST00000703395.1:c.*136C>T	ENSP00000515286.1:n.*136C>T
ENST00000703397.1:c.*136C>T	ENSP00000515287.1:n.*136C>T
ENST00000703398.1:c.1948C>T	ENSP00000515288.1:n.1948C>T
ENST00000703401.1:c.687C>T	ENSP00000515289.1:n.687C>T
ENST00000703423.1:c.*136C>T	ENSP00000515293.1:n.*136C>T
XR_936054.1:n.2721G>A