Canonical Allele Identifier: CA345387074

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917365T>G (hg19) ; chr1:g.236754065T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754065T>G , CM000663.2:g.236754065T>G	GRCh38
NC_000001.10:g.236917365T>G , CM000663.1:g.236917365T>G	GRCh37
NC_000001.9:g.234983988T>G	NCBI36
NG_009081.1:g.72596T>G
NG_009081.2:g.94925T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1958T>G	ENSP00000443495.1:p.Ile653Ser
ENST00000461367.2:n.254T>G
ENST00000492634.7:n.1888T>G
ENST00000682015.1:c.1865T>G	ENSP00000506961.1:p.Ile622Ser
ENST00000682692.1:n.3053T>G
ENST00000682966.1:n.7599T>G
ENST00000683111.1:c.*1244T>G	ENSP00000507913.1:n.*1244T>G
ENST00000683322.1:n.3310T>G
ENST00000684050.1:n.4596T>G
ENST00000684286.1:n.3513T>G
ENST00000684502.1:n.3255T>G
ENST00000684763.1:n.573T>G
ENST00000366578.6:c.1958T>G MANE Select	ENSP00000355537.4:p.Ile653Ser
ENST00000492634.6:n.1888T>G
ENST00000542672.6:c.1958T>G	ENSP00000443495.1:p.Ile653Ser
ENST00000651091.1:c.1648T>G	ENSP00000498677.1:n.1648T>G
ENST00000651275.1:c.1850T>G	ENSP00000498926.1:p.Ile617Ser
ENST00000651781.1:c.1038T>G
ENST00000651786.1:c.*1330T>G	ENSP00000498364.1:n.*1330T>G
ENST00000652096.1:c.*1363T>G	ENSP00000498896.1:n.*1363T>G
ENST00000366578.5:c.1958T>G	ENSP00000355537.4:p.Ile653Ser
ENST00000461367.1:n.167T>G
ENST00000542672.5:c.1958T>G	ENSP00000443495.1:p.Ile653Ser
ENST00000546208.5:c.1334T>G	ENSP00000438384.2:p.Ile445Ser
NM_001103.3:c.1958T>G	NP_001094.1:p.Ile653Ser
NM_001278343.1:c.1958T>G	NP_001265272.1:p.Ile653Ser
NM_001278344.1:c.1334T>G	NP_001265273.1:p.Ile445Ser
NM_001278343.2:c.1958T>G	NP_001265272.1:p.Ile653Ser
NM_001103.4:c.1958T>G MANE Select	NP_001094.1:p.Ile653Ser
NM_001278344.2:c.1334T>G	NP_001265273.1:p.Ile445Ser