Canonical Allele Identifier: CA423811253

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925892C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762592C>G , CM000663.2:g.236762592C>G	GRCh38
NC_000001.10:g.236925892C>G , CM000663.1:g.236925892C>G	GRCh37
NC_000001.9:g.234992515C>G	NCBI36
NG_009081.1:g.81123C>G
NG_009081.2:g.103452C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2658C>G	ENSP00000443495.1:p.Ser886=
ENST00000461367.2:n.954C>G
ENST00000492634.7:n.2588C>G
ENST00000682015.1:c.2565C>G	ENSP00000506961.1:p.Ser855=
ENST00000682490.1:n.576C>G
ENST00000682692.1:n.3753C>G
ENST00000682966.1:n.8299C>G
ENST00000683111.1:c.*1944C>G	ENSP00000507913.1:n.*1944C>G
ENST00000683322.1:n.4010C>G
ENST00000683805.1:n.1449C>G
ENST00000684050.1:n.5296C>G
ENST00000684122.1:n.2092C>G
ENST00000684286.1:n.4213C>G
ENST00000684502.1:n.3955C>G
ENST00000684763.1:n.1273C>G
ENST00000366578.6:c.2658C>G MANE Select	ENSP00000355537.4:p.Ser886=
ENST00000492634.6:n.2588C>G
ENST00000542672.6:c.2658C>G	ENSP00000443495.1:p.Ser886=
ENST00000651091.1:c.2348C>G	ENSP00000498677.1:n.2348C>G
ENST00000651275.1:c.2550C>G	ENSP00000498926.1:p.Ser850=
ENST00000651781.1:c.1738C>G
ENST00000651786.1:c.*2030C>G	ENSP00000498364.1:n.*2030C>G
ENST00000652096.1:c.*2063C>G	ENSP00000498896.1:n.*2063C>G
ENST00000366578.5:c.2658C>G	ENSP00000355537.4:p.Ser886=
ENST00000542672.5:c.2658C>G	ENSP00000443495.1:p.Ser886=
ENST00000546208.5:c.2034C>G	ENSP00000438384.2:p.Ser678=
NM_001103.3:c.2658C>G	NP_001094.1:p.Ser886=
NM_001278343.1:c.2658C>G	NP_001265272.1:p.Ser886=
NM_001278344.1:c.2034C>G	NP_001265273.1:p.Ser678=
NM_001278343.2:c.2658C>G	NP_001265272.1:p.Ser886=
NM_001103.4:c.2658C>G MANE Select	NP_001094.1:p.Ser886=
NM_001278344.2:c.2034C>G	NP_001265273.1:p.Ser678=