Canonical Allele Identifier: CA345392722

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925914C>G (hg19) ; chr1:g.236762614C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762614C>G , CM000663.2:g.236762614C>G	GRCh38
NC_000001.10:g.236925914C>G , CM000663.1:g.236925914C>G	GRCh37
NC_000001.9:g.234992537C>G	NCBI36
NG_009081.1:g.81145C>G
NG_009081.2:g.103474C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2680C>G	ENSP00000443495.1:p.Leu894Val
ENST00000461367.2:n.976C>G
ENST00000492634.7:n.2610C>G
ENST00000682015.1:c.2587C>G	ENSP00000506961.1:p.Leu863Val
ENST00000682490.1:n.598C>G
ENST00000682692.1:n.3775C>G
ENST00000682966.1:n.8321C>G
ENST00000683111.1:c.*1966C>G	ENSP00000507913.1:n.*1966C>G
ENST00000683322.1:n.4032C>G
ENST00000683805.1:n.1471C>G
ENST00000684050.1:n.5318C>G
ENST00000684122.1:n.2114C>G
ENST00000684286.1:n.4235C>G
ENST00000684502.1:n.3977C>G
ENST00000684763.1:n.1295C>G
ENST00000366578.6:c.2680C>G MANE Select	ENSP00000355537.4:p.Leu894Val
ENST00000492634.6:n.2610C>G
ENST00000542672.6:c.2680C>G	ENSP00000443495.1:p.Leu894Val
ENST00000651275.1:c.2572C>G	ENSP00000498926.1:p.Leu858Val
ENST00000651781.1:c.1760C>G
ENST00000651786.1:c.*2052C>G	ENSP00000498364.1:n.*2052C>G
ENST00000652096.1:c.*2085C>G	ENSP00000498896.1:n.*2085C>G
ENST00000366578.5:c.2680C>G	ENSP00000355537.4:p.Leu894Val
ENST00000542672.5:c.2680C>G	ENSP00000443495.1:p.Leu894Val
ENST00000546208.5:c.2056C>G	ENSP00000438384.2:p.Leu686Val
NM_001103.3:c.2680C>G	NP_001094.1:p.Leu894Val
NM_001278343.1:c.2680C>G	NP_001265272.1:p.Leu894Val
NM_001278344.1:c.2056C>G	NP_001265273.1:p.Leu686Val
NM_001278343.2:c.2680C>G	NP_001265272.1:p.Leu894Val
NM_001103.4:c.2680C>G MANE Select	NP_001094.1:p.Leu894Val
NM_001278344.2:c.2056C>G	NP_001265273.1:p.Leu686Val