Canonical Allele Identifier: CA423811181

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925847C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762547C>G , CM000663.2:g.236762547C>G	GRCh38
NC_000001.10:g.236925847C>G , CM000663.1:g.236925847C>G	GRCh37
NC_000001.9:g.234992470C>G	NCBI36
NG_009081.1:g.81078C>G
NG_009081.2:g.103407C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2613C>G	ENSP00000443495.1:p.Gly871=
ENST00000461367.2:n.909C>G
ENST00000492634.7:n.2543C>G
ENST00000682015.1:c.2520C>G	ENSP00000506961.1:p.Gly840=
ENST00000682490.1:n.531C>G
ENST00000682692.1:n.3708C>G
ENST00000682966.1:n.8254C>G
ENST00000683111.1:c.*1899C>G	ENSP00000507913.1:n.*1899C>G
ENST00000683322.1:n.3965C>G
ENST00000683805.1:n.1404C>G
ENST00000684050.1:n.5251C>G
ENST00000684122.1:n.2047C>G
ENST00000684286.1:n.4168C>G
ENST00000684502.1:n.3910C>G
ENST00000684763.1:n.1228C>G
ENST00000366578.6:c.2613C>G MANE Select	ENSP00000355537.4:p.Gly871=
ENST00000492634.6:n.2543C>G
ENST00000542672.6:c.2613C>G	ENSP00000443495.1:p.Gly871=
ENST00000651091.1:c.2303C>G	ENSP00000498677.1:n.2303C>G
ENST00000651275.1:c.2505C>G	ENSP00000498926.1:p.Gly835=
ENST00000651781.1:c.1693C>G
ENST00000651786.1:c.*1985C>G	ENSP00000498364.1:n.*1985C>G
ENST00000652096.1:c.*2018C>G	ENSP00000498896.1:n.*2018C>G
ENST00000366578.5:c.2613C>G	ENSP00000355537.4:p.Gly871=
ENST00000461367.1:n.822C>G
ENST00000542672.5:c.2613C>G	ENSP00000443495.1:p.Gly871=
ENST00000546208.5:c.1989C>G	ENSP00000438384.2:p.Gly663=
NM_001103.3:c.2613C>G	NP_001094.1:p.Gly871=
NM_001278343.1:c.2613C>G	NP_001265272.1:p.Gly871=
NM_001278344.1:c.1989C>G	NP_001265273.1:p.Gly663=
NM_001278343.2:c.2613C>G	NP_001265272.1:p.Gly871=
NM_001103.4:c.2613C>G MANE Select	NP_001094.1:p.Gly871=
NM_001278344.2:c.1989C>G	NP_001265273.1:p.Gly663=