Canonical Allele Identifier: CA423810042

Gene: ACTN2

Linked Data

• dbSNP Id: rs144680712
• MyVariant Identifiers: chr1:g.236917339C>T (hg19) ; chr1:g.236754039C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754039C>T , CM000663.2:g.236754039C>T	GRCh38
NC_000001.10:g.236917339C>T , CM000663.1:g.236917339C>T	GRCh37
NC_000001.9:g.234983962C>T	NCBI36
NG_009081.1:g.72570C>T
NG_009081.2:g.94899C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1932C>T	ENSP00000443495.1:p.Ala644=
ENST00000461367.2:n.228C>T
ENST00000492634.7:n.1862C>T
ENST00000682015.1:c.1839C>T	ENSP00000506961.1:p.Ala613=
ENST00000682692.1:n.3027C>T
ENST00000682966.1:n.7573C>T
ENST00000683111.1:c.*1218C>T	ENSP00000507913.1:n.*1218C>T
ENST00000683322.1:n.3284C>T
ENST00000684050.1:n.4570C>T
ENST00000684286.1:n.3487C>T
ENST00000684502.1:n.3229C>T
ENST00000684763.1:n.547C>T
ENST00000366578.6:c.1932C>T MANE Select	ENSP00000355537.4:p.Ala644=
ENST00000492634.6:n.1862C>T
ENST00000542672.6:c.1932C>T	ENSP00000443495.1:p.Ala644=
ENST00000651091.1:c.1622C>T	ENSP00000498677.1:n.1622C>T
ENST00000651275.1:c.1824C>T	ENSP00000498926.1:p.Ala608=
ENST00000651781.1:c.1012C>T
ENST00000651786.1:c.*1304C>T	ENSP00000498364.1:n.*1304C>T
ENST00000652096.1:c.*1337C>T	ENSP00000498896.1:n.*1337C>T
ENST00000366578.5:c.1932C>T	ENSP00000355537.4:p.Ala644=
ENST00000461367.1:n.141C>T
ENST00000542672.5:c.1932C>T	ENSP00000443495.1:p.Ala644=
ENST00000546208.5:c.1308C>T	ENSP00000438384.2:p.Ala436=
NM_001103.3:c.1932C>T	NP_001094.1:p.Ala644=
NM_001278343.1:c.1932C>T	NP_001265272.1:p.Ala644=
NM_001278344.1:c.1308C>T	NP_001265273.1:p.Ala436=
NM_001278343.2:c.1932C>T	NP_001265272.1:p.Ala644=
NM_001103.4:c.1932C>T MANE Select	NP_001094.1:p.Ala644=
NM_001278344.2:c.1308C>T	NP_001265273.1:p.Ala436=