Canonical Allele Identifier: CA423811147

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2691017
• ClinVar RCV Id: RCV003487109
• MyVariant Identifiers: chr1:g.236925820C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762520C>T , CM000663.2:g.236762520C>T	GRCh38
NC_000001.10:g.236925820C>T , CM000663.1:g.236925820C>T	GRCh37
NC_000001.9:g.234992443C>T	NCBI36
NG_009081.1:g.81051C>T
NG_009081.2:g.103380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2586C>T	ENSP00000443495.1:p.Cys862=
ENST00000461367.2:n.882C>T
ENST00000492634.7:n.2516C>T
ENST00000682015.1:c.2493C>T	ENSP00000506961.1:p.Cys831=
ENST00000682490.1:n.504C>T
ENST00000682692.1:n.3681C>T
ENST00000682966.1:n.8227C>T
ENST00000683111.1:c.*1872C>T	ENSP00000507913.1:n.*1872C>T
ENST00000683322.1:n.3938C>T
ENST00000683805.1:n.1377C>T
ENST00000684050.1:n.5224C>T
ENST00000684122.1:n.2020C>T
ENST00000684286.1:n.4141C>T
ENST00000684502.1:n.3883C>T
ENST00000684763.1:n.1201C>T
ENST00000366578.6:c.2586C>T MANE Select	ENSP00000355537.4:p.Cys862=
ENST00000492634.6:n.2516C>T
ENST00000542672.6:c.2586C>T	ENSP00000443495.1:p.Cys862=
ENST00000651091.1:c.2276C>T	ENSP00000498677.1:n.2276C>T
ENST00000651275.1:c.2478C>T	ENSP00000498926.1:p.Cys826=
ENST00000651781.1:c.1666C>T
ENST00000651786.1:c.*1958C>T	ENSP00000498364.1:n.*1958C>T
ENST00000652096.1:c.*1991C>T	ENSP00000498896.1:n.*1991C>T
ENST00000366578.5:c.2586C>T	ENSP00000355537.4:p.Cys862=
ENST00000461367.1:n.795C>T
ENST00000542672.5:c.2586C>T	ENSP00000443495.1:p.Cys862=
ENST00000546208.5:c.1962C>T	ENSP00000438384.2:p.Cys654=
NM_001103.3:c.2586C>T	NP_001094.1:p.Cys862=
NM_001278343.1:c.2586C>T	NP_001265272.1:p.Cys862=
NM_001278344.1:c.1962C>T	NP_001265273.1:p.Cys654=
NM_001278343.2:c.2586C>T	NP_001265272.1:p.Cys862=
NM_001103.4:c.2586C>T MANE Select	NP_001094.1:p.Cys862=
NM_001278344.2:c.1962C>T	NP_001265273.1:p.Cys654=