Canonical Allele Identifier: CA345392267

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925818T>G (hg19) ; chr1:g.236762518T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762518T>G , CM000663.2:g.236762518T>G	GRCh38
NC_000001.10:g.236925818T>G , CM000663.1:g.236925818T>G	GRCh37
NC_000001.9:g.234992441T>G	NCBI36
NG_009081.1:g.81049T>G
NG_009081.2:g.103378T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2584T>G	ENSP00000443495.1:p.Cys862Gly
ENST00000461367.2:n.880T>G
ENST00000492634.7:n.2514T>G
ENST00000682015.1:c.2491T>G	ENSP00000506961.1:p.Cys831Gly
ENST00000682490.1:n.502T>G
ENST00000682692.1:n.3679T>G
ENST00000682966.1:n.8225T>G
ENST00000683111.1:c.*1870T>G	ENSP00000507913.1:n.*1870T>G
ENST00000683322.1:n.3936T>G
ENST00000683805.1:n.1375T>G
ENST00000684050.1:n.5222T>G
ENST00000684122.1:n.2018T>G
ENST00000684286.1:n.4139T>G
ENST00000684502.1:n.3881T>G
ENST00000684763.1:n.1199T>G
ENST00000366578.6:c.2584T>G MANE Select	ENSP00000355537.4:p.Cys862Gly
ENST00000492634.6:n.2514T>G
ENST00000542672.6:c.2584T>G	ENSP00000443495.1:p.Cys862Gly
ENST00000651091.1:c.2274T>G	ENSP00000498677.1:n.2274T>G
ENST00000651275.1:c.2476T>G	ENSP00000498926.1:p.Cys826Gly
ENST00000651781.1:c.1664T>G
ENST00000651786.1:c.*1956T>G	ENSP00000498364.1:n.*1956T>G
ENST00000652096.1:c.*1989T>G	ENSP00000498896.1:n.*1989T>G
ENST00000366578.5:c.2584T>G	ENSP00000355537.4:p.Cys862Gly
ENST00000461367.1:n.793T>G
ENST00000542672.5:c.2584T>G	ENSP00000443495.1:p.Cys862Gly
ENST00000546208.5:c.1960T>G	ENSP00000438384.2:p.Cys654Gly
NM_001103.3:c.2584T>G	NP_001094.1:p.Cys862Gly
NM_001278343.1:c.2584T>G	NP_001265272.1:p.Cys862Gly
NM_001278344.1:c.1960T>G	NP_001265273.1:p.Cys654Gly
NM_001278343.2:c.2584T>G	NP_001265272.1:p.Cys862Gly
NM_001103.4:c.2584T>G MANE Select	NP_001094.1:p.Cys862Gly
NM_001278344.2:c.1960T>G	NP_001265273.1:p.Cys654Gly