Canonical Allele Identifier: CA423811238

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925880T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762580T>G , CM000663.2:g.236762580T>G	GRCh38
NC_000001.10:g.236925880T>G , CM000663.1:g.236925880T>G	GRCh37
NC_000001.9:g.234992503T>G	NCBI36
NG_009081.1:g.81111T>G
NG_009081.2:g.103440T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2646T>G	ENSP00000443495.1:p.Ala882=
ENST00000461367.2:n.942T>G
ENST00000492634.7:n.2576T>G
ENST00000682015.1:c.2553T>G	ENSP00000506961.1:p.Ala851=
ENST00000682490.1:n.564T>G
ENST00000682692.1:n.3741T>G
ENST00000682966.1:n.8287T>G
ENST00000683111.1:c.*1932T>G	ENSP00000507913.1:n.*1932T>G
ENST00000683322.1:n.3998T>G
ENST00000683805.1:n.1437T>G
ENST00000684050.1:n.5284T>G
ENST00000684122.1:n.2080T>G
ENST00000684286.1:n.4201T>G
ENST00000684502.1:n.3943T>G
ENST00000684763.1:n.1261T>G
ENST00000366578.6:c.2646T>G MANE Select	ENSP00000355537.4:p.Ala882=
ENST00000492634.6:n.2576T>G
ENST00000542672.6:c.2646T>G	ENSP00000443495.1:p.Ala882=
ENST00000651091.1:c.2336T>G	ENSP00000498677.1:n.2336T>G
ENST00000651275.1:c.2538T>G	ENSP00000498926.1:p.Ala846=
ENST00000651781.1:c.1726T>G
ENST00000651786.1:c.*2018T>G	ENSP00000498364.1:n.*2018T>G
ENST00000652096.1:c.*2051T>G	ENSP00000498896.1:n.*2051T>G
ENST00000366578.5:c.2646T>G	ENSP00000355537.4:p.Ala882=
ENST00000542672.5:c.2646T>G	ENSP00000443495.1:p.Ala882=
ENST00000546208.5:c.2022T>G	ENSP00000438384.2:p.Ala674=
NM_001103.3:c.2646T>G	NP_001094.1:p.Ala882=
NM_001278343.1:c.2646T>G	NP_001265272.1:p.Ala882=
NM_001278344.1:c.2022T>G	NP_001265273.1:p.Ala674=
NM_001278343.2:c.2646T>G	NP_001265272.1:p.Ala882=
NM_001103.4:c.2646T>G MANE Select	NP_001094.1:p.Ala882=
NM_001278344.2:c.2022T>G	NP_001265273.1:p.Ala674=