Canonical Allele Identifier: CA345387593

Gene: ACTN2

Linked Data

• dbSNP Id: rs2102944073
• MyVariant Identifiers: chr1:g.236918412A>T (hg19) ; chr1:g.236755112A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755112A>T , CM000663.2:g.236755112A>T	GRCh38
NC_000001.10:g.236918412A>T , CM000663.1:g.236918412A>T	GRCh37
NC_000001.9:g.234985035A>T	NCBI36
NG_009081.1:g.73643A>T
NG_009081.2:g.95972A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2068A>T	ENSP00000443495.1:p.Asn690Tyr
ENST00000461367.2:n.364A>T
ENST00000492634.7:n.1998A>T
ENST00000682015.1:c.1975A>T	ENSP00000506961.1:p.Asn659Tyr
ENST00000682692.1:n.3163A>T
ENST00000682966.1:n.7709A>T
ENST00000683111.1:c.*1354A>T	ENSP00000507913.1:n.*1354A>T
ENST00000683322.1:n.3420A>T
ENST00000683805.1:n.859A>T
ENST00000684050.1:n.4706A>T
ENST00000684122.1:n.215A>T
ENST00000684286.1:n.3623A>T
ENST00000684502.1:n.3365A>T
ENST00000684763.1:n.683A>T
ENST00000366578.6:c.2068A>T MANE Select	ENSP00000355537.4:p.Asn690Tyr
ENST00000492634.6:n.1998A>T
ENST00000542672.6:c.2068A>T	ENSP00000443495.1:p.Asn690Tyr
ENST00000651091.1:c.1758A>T	ENSP00000498677.1:n.1758A>T
ENST00000651275.1:c.1960A>T	ENSP00000498926.1:p.Asn654Tyr
ENST00000651781.1:c.1148A>T
ENST00000651786.1:c.*1440A>T	ENSP00000498364.1:n.*1440A>T
ENST00000652096.1:c.*1473A>T	ENSP00000498896.1:n.*1473A>T
ENST00000366578.5:c.2068A>T	ENSP00000355537.4:p.Asn690Tyr
ENST00000461367.1:n.277A>T
ENST00000542672.5:c.2068A>T	ENSP00000443495.1:p.Asn690Tyr
ENST00000546208.5:c.1444A>T	ENSP00000438384.2:p.Asn482Tyr
NM_001103.3:c.2068A>T	NP_001094.1:p.Asn690Tyr
NM_001278343.1:c.2068A>T	NP_001265272.1:p.Asn690Tyr
NM_001278344.1:c.1444A>T	NP_001265273.1:p.Asn482Tyr
NM_001278343.2:c.2068A>T	NP_001265272.1:p.Asn690Tyr
NM_001103.4:c.2068A>T MANE Select	NP_001094.1:p.Asn690Tyr
NM_001278344.2:c.1444A>T	NP_001265273.1:p.Asn482Tyr