Canonical Allele Identifier: CA423811259

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925895A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762595A>T , CM000663.2:g.236762595A>T	GRCh38
NC_000001.10:g.236925895A>T , CM000663.1:g.236925895A>T	GRCh37
NC_000001.9:g.234992518A>T	NCBI36
NG_009081.1:g.81126A>T
NG_009081.2:g.103455A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2661A>T	ENSP00000443495.1:p.Ala887=
ENST00000461367.2:n.957A>T
ENST00000492634.7:n.2591A>T
ENST00000682015.1:c.2568A>T	ENSP00000506961.1:p.Ala856=
ENST00000682490.1:n.579A>T
ENST00000682692.1:n.3756A>T
ENST00000682966.1:n.8302A>T
ENST00000683111.1:c.*1947A>T	ENSP00000507913.1:n.*1947A>T
ENST00000683322.1:n.4013A>T
ENST00000683805.1:n.1452A>T
ENST00000684050.1:n.5299A>T
ENST00000684122.1:n.2095A>T
ENST00000684286.1:n.4216A>T
ENST00000684502.1:n.3958A>T
ENST00000684763.1:n.1276A>T
ENST00000366578.6:c.2661A>T MANE Select	ENSP00000355537.4:p.Ala887=
ENST00000492634.6:n.2591A>T
ENST00000542672.6:c.2661A>T	ENSP00000443495.1:p.Ala887=
ENST00000651091.1:c.2351A>T	ENSP00000498677.1:n.2351A>T
ENST00000651275.1:c.2553A>T	ENSP00000498926.1:p.Ala851=
ENST00000651781.1:c.1741A>T
ENST00000651786.1:c.*2033A>T	ENSP00000498364.1:n.*2033A>T
ENST00000652096.1:c.*2066A>T	ENSP00000498896.1:n.*2066A>T
ENST00000366578.5:c.2661A>T	ENSP00000355537.4:p.Ala887=
ENST00000542672.5:c.2661A>T	ENSP00000443495.1:p.Ala887=
ENST00000546208.5:c.2037A>T	ENSP00000438384.2:p.Ala679=
NM_001103.3:c.2661A>T	NP_001094.1:p.Ala887=
NM_001278343.1:c.2661A>T	NP_001265272.1:p.Ala887=
NM_001278344.1:c.2037A>T	NP_001265273.1:p.Ala679=
NM_001278343.2:c.2661A>T	NP_001265272.1:p.Ala887=
NM_001103.4:c.2661A>T MANE Select	NP_001094.1:p.Ala887=
NM_001278344.2:c.2037A>T	NP_001265273.1:p.Ala679=