Canonical Allele Identifier: CA2487049918

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754040C= , CM000663.2:g.236754040C=	GRCh38
NC_000001.10:g.236917340C= , CM000663.1:g.236917340C=	GRCh37
NC_000001.9:g.234983963C=	NCBI36
NG_009081.1:g.72571C=
NG_009081.2:g.94900C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1933C=	ENSP00000443495.1:p.Gln645=
ENST00000461367.2:n.229C=
ENST00000492634.7:n.1863C=
ENST00000682015.1:c.1840C=	ENSP00000506961.1:p.Gln614=
ENST00000682692.1:n.3028C=
ENST00000682966.1:n.7574C=
ENST00000683111.1:c.*1219C=	ENSP00000507913.1:n.*1219C=
ENST00000683322.1:n.3285C=
ENST00000684050.1:n.4571C=
ENST00000684286.1:n.3488C=
ENST00000684502.1:n.3230C=
ENST00000684763.1:n.548C=
ENST00000366578.6:c.1933C= MANE Select	ENSP00000355537.4:p.Gln645=
ENST00000492634.6:n.1863C=
ENST00000542672.6:c.1933C=	ENSP00000443495.1:p.Gln645=
ENST00000651091.1:c.1623C=	ENSP00000498677.1:n.1623C=
ENST00000651275.1:c.1825C=	ENSP00000498926.1:p.Gln609=
ENST00000651781.1:c.1013C=
ENST00000651786.1:c.*1305C=	ENSP00000498364.1:n.*1305C=
ENST00000652096.1:c.*1338C=	ENSP00000498896.1:n.*1338C=
ENST00000366578.5:c.1933C=	ENSP00000355537.4:p.Gln645=
ENST00000461367.1:n.142C=
ENST00000542672.5:c.1933C=	ENSP00000443495.1:p.Gln645=
ENST00000546208.5:c.1309C=	ENSP00000438384.2:p.Gln437=
NM_001103.3:c.1933C=	NP_001094.1:p.Gln645=
NM_001278343.1:c.1933C=	NP_001265272.1:p.Gln645=
NM_001278344.1:c.1309C=	NP_001265273.1:p.Gln437=
NM_001278343.2:c.1933C=	NP_001265272.1:p.Gln645=
NM_001103.4:c.1933C= MANE Select	NP_001094.1:p.Gln645=
NM_001278344.2:c.1309C=	NP_001265273.1:p.Gln437=