Canonical Allele Identifier: CA423811246

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925889T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762589T>A , CM000663.2:g.236762589T>A	GRCh38
NC_000001.10:g.236925889T>A , CM000663.1:g.236925889T>A	GRCh37
NC_000001.9:g.234992512T>A	NCBI36
NG_009081.1:g.81120T>A
NG_009081.2:g.103449T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2655T>A	ENSP00000443495.1:p.Ser885=
ENST00000461367.2:n.951T>A
ENST00000492634.7:n.2585T>A
ENST00000682015.1:c.2562T>A	ENSP00000506961.1:p.Ser854=
ENST00000682490.1:n.573T>A
ENST00000682692.1:n.3750T>A
ENST00000682966.1:n.8296T>A
ENST00000683111.1:c.*1941T>A	ENSP00000507913.1:n.*1941T>A
ENST00000683322.1:n.4007T>A
ENST00000683805.1:n.1446T>A
ENST00000684050.1:n.5293T>A
ENST00000684122.1:n.2089T>A
ENST00000684286.1:n.4210T>A
ENST00000684502.1:n.3952T>A
ENST00000684763.1:n.1270T>A
ENST00000366578.6:c.2655T>A MANE Select	ENSP00000355537.4:p.Ser885=
ENST00000492634.6:n.2585T>A
ENST00000542672.6:c.2655T>A	ENSP00000443495.1:p.Ser885=
ENST00000651091.1:c.2345T>A	ENSP00000498677.1:n.2345T>A
ENST00000651275.1:c.2547T>A	ENSP00000498926.1:p.Ser849=
ENST00000651781.1:c.1735T>A
ENST00000651786.1:c.*2027T>A	ENSP00000498364.1:n.*2027T>A
ENST00000652096.1:c.*2060T>A	ENSP00000498896.1:n.*2060T>A
ENST00000366578.5:c.2655T>A	ENSP00000355537.4:p.Ser885=
ENST00000542672.5:c.2655T>A	ENSP00000443495.1:p.Ser885=
ENST00000546208.5:c.2031T>A	ENSP00000438384.2:p.Ser677=
NM_001103.3:c.2655T>A	NP_001094.1:p.Ser885=
NM_001278343.1:c.2655T>A	NP_001265272.1:p.Ser885=
NM_001278344.1:c.2031T>A	NP_001265273.1:p.Ser677=
NM_001278343.2:c.2655T>A	NP_001265272.1:p.Ser885=
NM_001103.4:c.2655T>A MANE Select	NP_001094.1:p.Ser885=
NM_001278344.2:c.2031T>A	NP_001265273.1:p.Ser677=