Canonical Allele Identifier: CA345392412

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925842T>G (hg19) ; chr1:g.236762542T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762542T>G , CM000663.2:g.236762542T>G	GRCh38
NC_000001.10:g.236925842T>G , CM000663.1:g.236925842T>G	GRCh37
NC_000001.9:g.234992465T>G	NCBI36
NG_009081.1:g.81073T>G
NG_009081.2:g.103402T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2608T>G	ENSP00000443495.1:p.Ser870Ala
ENST00000461367.2:n.904T>G
ENST00000492634.7:n.2538T>G
ENST00000682015.1:c.2515T>G	ENSP00000506961.1:p.Ser839Ala
ENST00000682490.1:n.526T>G
ENST00000682692.1:n.3703T>G
ENST00000682966.1:n.8249T>G
ENST00000683111.1:c.*1894T>G	ENSP00000507913.1:n.*1894T>G
ENST00000683322.1:n.3960T>G
ENST00000683805.1:n.1399T>G
ENST00000684050.1:n.5246T>G
ENST00000684122.1:n.2042T>G
ENST00000684286.1:n.4163T>G
ENST00000684502.1:n.3905T>G
ENST00000684763.1:n.1223T>G
ENST00000366578.6:c.2608T>G MANE Select	ENSP00000355537.4:p.Ser870Ala
ENST00000492634.6:n.2538T>G
ENST00000542672.6:c.2608T>G	ENSP00000443495.1:p.Ser870Ala
ENST00000651091.1:c.2298T>G	ENSP00000498677.1:n.2298T>G
ENST00000651275.1:c.2500T>G	ENSP00000498926.1:p.Ser834Ala
ENST00000651781.1:c.1688T>G
ENST00000651786.1:c.*1980T>G	ENSP00000498364.1:n.*1980T>G
ENST00000652096.1:c.*2013T>G	ENSP00000498896.1:n.*2013T>G
ENST00000366578.5:c.2608T>G	ENSP00000355537.4:p.Ser870Ala
ENST00000461367.1:n.817T>G
ENST00000542672.5:c.2608T>G	ENSP00000443495.1:p.Ser870Ala
ENST00000546208.5:c.1984T>G	ENSP00000438384.2:p.Ser662Ala
NM_001103.3:c.2608T>G	NP_001094.1:p.Ser870Ala
NM_001278343.1:c.2608T>G	NP_001265272.1:p.Ser870Ala
NM_001278344.1:c.1984T>G	NP_001265273.1:p.Ser662Ala
NM_001278343.2:c.2608T>G	NP_001265272.1:p.Ser870Ala
NM_001103.4:c.2608T>G MANE Select	NP_001094.1:p.Ser870Ala
NM_001278344.2:c.1984T>G	NP_001265273.1:p.Ser662Ala