Canonical Allele Identifier: CA345392107

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925780A>T (hg19) ; chr1:g.236762480A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762480A>T , CM000663.2:g.236762480A>T	GRCh38
NC_000001.10:g.236925780A>T , CM000663.1:g.236925780A>T	GRCh37
NC_000001.9:g.234992403A>T	NCBI36
NG_009081.1:g.81011A>T
NG_009081.2:g.103340A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2546A>T	ENSP00000443495.1:p.Glu849Val
ENST00000461367.2:n.842A>T
ENST00000492634.7:n.2476A>T
ENST00000682015.1:c.2453A>T	ENSP00000506961.1:p.Glu818Val
ENST00000682490.1:n.464A>T
ENST00000682692.1:n.3641A>T
ENST00000682966.1:n.8187A>T
ENST00000683111.1:c.*1832A>T	ENSP00000507913.1:n.*1832A>T
ENST00000683322.1:n.3898A>T
ENST00000683805.1:n.1337A>T
ENST00000684050.1:n.5184A>T
ENST00000684122.1:n.1980A>T
ENST00000684286.1:n.4101A>T
ENST00000684502.1:n.3843A>T
ENST00000684763.1:n.1161A>T
ENST00000366578.6:c.2546A>T MANE Select	ENSP00000355537.4:p.Glu849Val
ENST00000492634.6:n.2476A>T
ENST00000542672.6:c.2546A>T	ENSP00000443495.1:p.Glu849Val
ENST00000651091.1:c.2236A>T	ENSP00000498677.1:n.2236A>T
ENST00000651275.1:c.2438A>T	ENSP00000498926.1:p.Glu813Val
ENST00000651781.1:c.1626A>T
ENST00000651786.1:c.*1918A>T	ENSP00000498364.1:n.*1918A>T
ENST00000652096.1:c.*1951A>T	ENSP00000498896.1:n.*1951A>T
ENST00000366578.5:c.2546A>T	ENSP00000355537.4:p.Glu849Val
ENST00000461367.1:n.755A>T
ENST00000542672.5:c.2546A>T	ENSP00000443495.1:p.Glu849Val
ENST00000546208.5:c.1922A>T	ENSP00000438384.2:p.Glu641Val
NM_001103.3:c.2546A>T	NP_001094.1:p.Glu849Val
NM_001278343.1:c.2546A>T	NP_001265272.1:p.Glu849Val
NM_001278344.1:c.1922A>T	NP_001265273.1:p.Glu641Val
NM_001278343.2:c.2546A>T	NP_001265272.1:p.Glu849Val
NM_001103.4:c.2546A>T MANE Select	NP_001094.1:p.Glu849Val
NM_001278344.2:c.1922A>T	NP_001265273.1:p.Glu641Val