Canonical Allele Identifier: CA423810417

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920794T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757494T>C , CM000663.2:g.236757494T>C	GRCh38
NC_000001.10:g.236920794T>C , CM000663.1:g.236920794T>C	GRCh37
NC_000001.9:g.234987417T>C	NCBI36
NG_009081.1:g.76025T>C
NG_009081.2:g.98354T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2163T>C	ENSP00000443495.1:p.Arg721=
ENST00000461367.2:n.459T>C
ENST00000492634.7:n.2093T>C
ENST00000682015.1:c.2070T>C	ENSP00000506961.1:p.Arg690=
ENST00000682490.1:n.81T>C
ENST00000682692.1:n.3258T>C
ENST00000682966.1:n.7804T>C
ENST00000683111.1:c.*1449T>C	ENSP00000507913.1:n.*1449T>C
ENST00000683322.1:n.3515T>C
ENST00000683805.1:n.954T>C
ENST00000684050.1:n.4801T>C
ENST00000684122.1:n.310T>C
ENST00000684286.1:n.3718T>C
ENST00000684502.1:n.3460T>C
ENST00000684763.1:n.778T>C
ENST00000366578.6:c.2163T>C MANE Select	ENSP00000355537.4:p.Arg721=
ENST00000492634.6:n.2093T>C
ENST00000542672.6:c.2163T>C	ENSP00000443495.1:p.Arg721=
ENST00000651091.1:c.1853T>C	ENSP00000498677.1:n.1853T>C
ENST00000651275.1:c.2055T>C	ENSP00000498926.1:p.Arg685=
ENST00000651781.1:c.1243T>C
ENST00000651786.1:c.*1535T>C	ENSP00000498364.1:n.*1535T>C
ENST00000652096.1:c.*1568T>C	ENSP00000498896.1:n.*1568T>C
ENST00000366578.5:c.2163T>C	ENSP00000355537.4:p.Arg721=
ENST00000461367.1:n.372T>C
ENST00000542672.5:c.2163T>C	ENSP00000443495.1:p.Arg721=
ENST00000546208.5:c.1539T>C	ENSP00000438384.2:p.Arg513=
NM_001103.3:c.2163T>C	NP_001094.1:p.Arg721=
NM_001278343.1:c.2163T>C	NP_001265272.1:p.Arg721=
NM_001278344.1:c.1539T>C	NP_001265273.1:p.Arg513=
NM_001278343.2:c.2163T>C	NP_001265272.1:p.Arg721=
NM_001103.4:c.2163T>C MANE Select	NP_001094.1:p.Arg721=
NM_001278344.2:c.1539T>C	NP_001265273.1:p.Arg513=