Canonical Allele Identifier: CA345387779

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918494T>G (hg19) ; chr1:g.236755194T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755194T>G , CM000663.2:g.236755194T>G	GRCh38
NC_000001.10:g.236918494T>G , CM000663.1:g.236918494T>G	GRCh37
NC_000001.9:g.234985117T>G	NCBI36
NG_009081.1:g.73725T>G
NG_009081.2:g.96054T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2150T>G	ENSP00000443495.1:p.Met717Arg
ENST00000461367.2:n.446T>G
ENST00000492634.7:n.2080T>G
ENST00000682015.1:c.2057T>G	ENSP00000506961.1:p.Met686Arg
ENST00000682692.1:n.3245T>G
ENST00000682966.1:n.7791T>G
ENST00000683111.1:c.*1436T>G	ENSP00000507913.1:n.*1436T>G
ENST00000683322.1:n.3502T>G
ENST00000683805.1:n.941T>G
ENST00000684050.1:n.4788T>G
ENST00000684122.1:n.297T>G
ENST00000684286.1:n.3705T>G
ENST00000684502.1:n.3447T>G
ENST00000684763.1:n.765T>G
ENST00000366578.6:c.2150T>G MANE Select	ENSP00000355537.4:p.Met717Arg
ENST00000492634.6:n.2080T>G
ENST00000542672.6:c.2150T>G	ENSP00000443495.1:p.Met717Arg
ENST00000651091.1:c.1840T>G	ENSP00000498677.1:n.1840T>G
ENST00000651275.1:c.2042T>G	ENSP00000498926.1:p.Met681Arg
ENST00000651781.1:c.1230T>G
ENST00000651786.1:c.*1522T>G	ENSP00000498364.1:n.*1522T>G
ENST00000652096.1:c.*1555T>G	ENSP00000498896.1:n.*1555T>G
ENST00000366578.5:c.2150T>G	ENSP00000355537.4:p.Met717Arg
ENST00000461367.1:n.359T>G
ENST00000542672.5:c.2150T>G	ENSP00000443495.1:p.Met717Arg
ENST00000546208.5:c.1526T>G	ENSP00000438384.2:p.Met509Arg
NM_001103.3:c.2150T>G	NP_001094.1:p.Met717Arg
NM_001278343.1:c.2150T>G	NP_001265272.1:p.Met717Arg
NM_001278344.1:c.1526T>G	NP_001265273.1:p.Met509Arg
NM_001278343.2:c.2150T>G	NP_001265272.1:p.Met717Arg
NM_001103.4:c.2150T>G MANE Select	NP_001094.1:p.Met717Arg
NM_001278344.2:c.1526T>G	NP_001265273.1:p.Met509Arg