Canonical Allele Identifier: CA423811113

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925790G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762490G>T , CM000663.2:g.236762490G>T	GRCh38
NC_000001.10:g.236925790G>T , CM000663.1:g.236925790G>T	GRCh37
NC_000001.9:g.234992413G>T	NCBI36
NG_009081.1:g.81021G>T
NG_009081.2:g.103350G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2556G>T	ENSP00000443495.1:p.Arg852=
ENST00000461367.2:n.852G>T
ENST00000492634.7:n.2486G>T
ENST00000682015.1:c.2463G>T	ENSP00000506961.1:p.Arg821=
ENST00000682490.1:n.474G>T
ENST00000682692.1:n.3651G>T
ENST00000682966.1:n.8197G>T
ENST00000683111.1:c.*1842G>T	ENSP00000507913.1:n.*1842G>T
ENST00000683322.1:n.3908G>T
ENST00000683805.1:n.1347G>T
ENST00000684050.1:n.5194G>T
ENST00000684122.1:n.1990G>T
ENST00000684286.1:n.4111G>T
ENST00000684502.1:n.3853G>T
ENST00000684763.1:n.1171G>T
ENST00000366578.6:c.2556G>T MANE Select	ENSP00000355537.4:p.Arg852=
ENST00000492634.6:n.2486G>T
ENST00000542672.6:c.2556G>T	ENSP00000443495.1:p.Arg852=
ENST00000651091.1:c.2246G>T	ENSP00000498677.1:n.2246G>T
ENST00000651275.1:c.2448G>T	ENSP00000498926.1:p.Arg816=
ENST00000651781.1:c.1636G>T
ENST00000651786.1:c.*1928G>T	ENSP00000498364.1:n.*1928G>T
ENST00000652096.1:c.*1961G>T	ENSP00000498896.1:n.*1961G>T
ENST00000366578.5:c.2556G>T	ENSP00000355537.4:p.Arg852=
ENST00000461367.1:n.765G>T
ENST00000542672.5:c.2556G>T	ENSP00000443495.1:p.Arg852=
ENST00000546208.5:c.1932G>T	ENSP00000438384.2:p.Arg644=
NM_001103.3:c.2556G>T	NP_001094.1:p.Arg852=
NM_001278343.1:c.2556G>T	NP_001265272.1:p.Arg852=
NM_001278344.1:c.1932G>T	NP_001265273.1:p.Arg644=
NM_001278343.2:c.2556G>T	NP_001265272.1:p.Arg852=
NM_001103.4:c.2556G>T MANE Select	NP_001094.1:p.Arg852=
NM_001278344.2:c.1932G>T	NP_001265273.1:p.Arg644=