Canonical Allele Identifier: CA133126

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236744741C>T , CM000663.2:g.236744741C>T	GRCh38
NC_000001.10:g.236908041C>T , CM000663.1:g.236908041C>T	GRCh37
NC_000001.9:g.234974664C>T	NCBI36
NG_009081.1:g.63272C>T
NG_009081.2:g.85601C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1371C>T	ENSP00000443495.1:p.Arg457=
ENST00000492634.7:n.1301C>T
ENST00000682015.1:c.1278C>T	ENSP00000506961.1:p.Arg426=
ENST00000682692.1:n.1118C>T
ENST00000682966.1:n.7012C>T
ENST00000683111.1:c.*657C>T	ENSP00000507913.1:n.*657C>T
ENST00000683322.1:n.2723C>T
ENST00000684050.1:n.4009C>T
ENST00000684286.1:n.2926C>T
ENST00000684502.1:n.1320C>T
ENST00000366578.6:c.1371C>T MANE Select	ENSP00000355537.4:p.Arg457=
ENST00000492634.6:n.1301C>T
ENST00000542672.6:c.1371C>T	ENSP00000443495.1:p.Arg457=
ENST00000651091.1:c.1061C>T	ENSP00000498677.1:n.1061C>T
ENST00000651275.1:c.1263C>T	ENSP00000498926.1:p.Arg421=
ENST00000651781.1:c.451C>T
ENST00000651786.1:c.*743C>T	ENSP00000498364.1:n.*743C>T
ENST00000652096.1:c.*776C>T	ENSP00000498896.1:n.*776C>T
ENST00000366578.5:c.1371C>T	ENSP00000355537.4:p.Arg457=
ENST00000492634.5:n.1604C>T
ENST00000542672.5:c.1371C>T	ENSP00000443495.1:p.Arg457=
ENST00000546208.5:c.747C>T	ENSP00000438384.2:p.Arg249=
NM_001103.3:c.1371C>T	NP_001094.1:p.Arg457=
NM_001278343.1:c.1371C>T	NP_001265272.1:p.Arg457=
NM_001278344.1:c.747C>T	NP_001265273.1:p.Arg249=
NM_001278343.2:c.1371C>T	NP_001265272.1:p.Arg457=
NM_001103.4:c.1371C>T MANE Select	NP_001094.1:p.Arg457=
NM_001278344.2:c.747C>T	NP_001265273.1:p.Arg249=