Canonical Allele Identifier: CA423810183

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918420C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755120C>A , CM000663.2:g.236755120C>A	GRCh38
NC_000001.10:g.236918420C>A , CM000663.1:g.236918420C>A	GRCh37
NC_000001.9:g.234985043C>A	NCBI36
NG_009081.1:g.73651C>A
NG_009081.2:g.95980C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2076C>A	ENSP00000443495.1:p.Ile692=
ENST00000461367.2:n.372C>A
ENST00000492634.7:n.2006C>A
ENST00000682015.1:c.1983C>A	ENSP00000506961.1:p.Ile661=
ENST00000682692.1:n.3171C>A
ENST00000682966.1:n.7717C>A
ENST00000683111.1:c.*1362C>A	ENSP00000507913.1:n.*1362C>A
ENST00000683322.1:n.3428C>A
ENST00000683805.1:n.867C>A
ENST00000684050.1:n.4714C>A
ENST00000684122.1:n.223C>A
ENST00000684286.1:n.3631C>A
ENST00000684502.1:n.3373C>A
ENST00000684763.1:n.691C>A
ENST00000366578.6:c.2076C>A MANE Select	ENSP00000355537.4:p.Ile692=
ENST00000492634.6:n.2006C>A
ENST00000542672.6:c.2076C>A	ENSP00000443495.1:p.Ile692=
ENST00000651091.1:c.1766C>A	ENSP00000498677.1:n.1766C>A
ENST00000651275.1:c.1968C>A	ENSP00000498926.1:p.Ile656=
ENST00000651781.1:c.1156C>A
ENST00000651786.1:c.*1448C>A	ENSP00000498364.1:n.*1448C>A
ENST00000652096.1:c.*1481C>A	ENSP00000498896.1:n.*1481C>A
ENST00000366578.5:c.2076C>A	ENSP00000355537.4:p.Ile692=
ENST00000461367.1:n.285C>A
ENST00000542672.5:c.2076C>A	ENSP00000443495.1:p.Ile692=
ENST00000546208.5:c.1452C>A	ENSP00000438384.2:p.Ile484=
NM_001103.3:c.2076C>A	NP_001094.1:p.Ile692=
NM_001278343.1:c.2076C>A	NP_001265272.1:p.Ile692=
NM_001278344.1:c.1452C>A	NP_001265273.1:p.Ile484=
NM_001278343.2:c.2076C>A	NP_001265272.1:p.Ile692=
NM_001103.4:c.2076C>A MANE Select	NP_001094.1:p.Ile692=
NM_001278344.2:c.1452C>A	NP_001265273.1:p.Ile484=