Canonical Allele Identifier: CA345387774

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918491C>A (hg19) ; chr1:g.236755191C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755191C>A , CM000663.2:g.236755191C>A	GRCh38
NC_000001.10:g.236918491C>A , CM000663.1:g.236918491C>A	GRCh37
NC_000001.9:g.234985114C>A	NCBI36
NG_009081.1:g.73722C>A
NG_009081.2:g.96051C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2147C>A	ENSP00000443495.1:p.Thr716Lys
ENST00000461367.2:n.443C>A
ENST00000492634.7:n.2077C>A
ENST00000682015.1:c.2054C>A	ENSP00000506961.1:p.Thr685Lys
ENST00000682692.1:n.3242C>A
ENST00000682966.1:n.7788C>A
ENST00000683111.1:c.*1433C>A	ENSP00000507913.1:n.*1433C>A
ENST00000683322.1:n.3499C>A
ENST00000683805.1:n.938C>A
ENST00000684050.1:n.4785C>A
ENST00000684122.1:n.294C>A
ENST00000684286.1:n.3702C>A
ENST00000684502.1:n.3444C>A
ENST00000684763.1:n.762C>A
ENST00000366578.6:c.2147C>A MANE Select	ENSP00000355537.4:p.Thr716Lys
ENST00000492634.6:n.2077C>A
ENST00000542672.6:c.2147C>A	ENSP00000443495.1:p.Thr716Lys
ENST00000651091.1:c.1837C>A	ENSP00000498677.1:n.1837C>A
ENST00000651275.1:c.2039C>A	ENSP00000498926.1:p.Thr680Lys
ENST00000651781.1:c.1227C>A
ENST00000651786.1:c.*1519C>A	ENSP00000498364.1:n.*1519C>A
ENST00000652096.1:c.*1552C>A	ENSP00000498896.1:n.*1552C>A
ENST00000366578.5:c.2147C>A	ENSP00000355537.4:p.Thr716Lys
ENST00000461367.1:n.356C>A
ENST00000542672.5:c.2147C>A	ENSP00000443495.1:p.Thr716Lys
ENST00000546208.5:c.1523C>A	ENSP00000438384.2:p.Thr508Lys
NM_001103.3:c.2147C>A	NP_001094.1:p.Thr716Lys
NM_001278343.1:c.2147C>A	NP_001265272.1:p.Thr716Lys
NM_001278344.1:c.1523C>A	NP_001265273.1:p.Thr508Lys
NM_001278343.2:c.2147C>A	NP_001265272.1:p.Thr716Lys
NM_001103.4:c.2147C>A MANE Select	NP_001094.1:p.Thr716Lys
NM_001278344.2:c.1523C>A	NP_001265273.1:p.Thr508Lys