Canonical Allele Identifier: CA345392325

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925828G>T (hg19) ; chr1:g.236762528G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762528G>T , CM000663.2:g.236762528G>T	GRCh38
NC_000001.10:g.236925828G>T , CM000663.1:g.236925828G>T	GRCh37
NC_000001.9:g.234992451G>T	NCBI36
NG_009081.1:g.81059G>T
NG_009081.2:g.103388G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2594G>T	ENSP00000443495.1:p.Arg865Met
ENST00000461367.2:n.890G>T
ENST00000492634.7:n.2524G>T
ENST00000682015.1:c.2501G>T	ENSP00000506961.1:p.Arg834Met
ENST00000682490.1:n.512G>T
ENST00000682692.1:n.3689G>T
ENST00000682966.1:n.8235G>T
ENST00000683111.1:c.*1880G>T	ENSP00000507913.1:n.*1880G>T
ENST00000683322.1:n.3946G>T
ENST00000683805.1:n.1385G>T
ENST00000684050.1:n.5232G>T
ENST00000684122.1:n.2028G>T
ENST00000684286.1:n.4149G>T
ENST00000684502.1:n.3891G>T
ENST00000684763.1:n.1209G>T
ENST00000366578.6:c.2594G>T MANE Select	ENSP00000355537.4:p.Arg865Met
ENST00000492634.6:n.2524G>T
ENST00000542672.6:c.2594G>T	ENSP00000443495.1:p.Arg865Met
ENST00000651091.1:c.2284G>T	ENSP00000498677.1:n.2284G>T
ENST00000651275.1:c.2486G>T	ENSP00000498926.1:p.Arg829Met
ENST00000651781.1:c.1674G>T
ENST00000651786.1:c.*1966G>T	ENSP00000498364.1:n.*1966G>T
ENST00000652096.1:c.*1999G>T	ENSP00000498896.1:n.*1999G>T
ENST00000366578.5:c.2594G>T	ENSP00000355537.4:p.Arg865Met
ENST00000461367.1:n.803G>T
ENST00000542672.5:c.2594G>T	ENSP00000443495.1:p.Arg865Met
ENST00000546208.5:c.1970G>T	ENSP00000438384.2:p.Arg657Met
NM_001103.3:c.2594G>T	NP_001094.1:p.Arg865Met
NM_001278343.1:c.2594G>T	NP_001265272.1:p.Arg865Met
NM_001278344.1:c.1970G>T	NP_001265273.1:p.Arg657Met
NM_001278343.2:c.2594G>T	NP_001265272.1:p.Arg865Met
NM_001103.4:c.2594G>T MANE Select	NP_001094.1:p.Arg865Met
NM_001278344.2:c.1970G>T	NP_001265273.1:p.Arg657Met