Canonical Allele Identifier: CA345383897

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911007T>G (hg19) ; chr1:g.236747707T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747707T>G , CM000663.2:g.236747707T>G	GRCh38
NC_000001.10:g.236911007T>G , CM000663.1:g.236911007T>G	GRCh37
NC_000001.9:g.234977630T>G	NCBI36
NG_009081.1:g.66238T>G
NG_009081.2:g.88567T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1447T>G	ENSP00000443495.1:p.Cys483Gly
ENST00000492634.7:n.1377T>G
ENST00000682015.1:c.1354T>G	ENSP00000506961.1:p.Cys452Gly
ENST00000682692.1:n.1194T>G
ENST00000682966.1:n.7088T>G
ENST00000683111.1:c.*733T>G	ENSP00000507913.1:n.*733T>G
ENST00000683322.1:n.2799T>G
ENST00000684050.1:n.4085T>G
ENST00000684286.1:n.3002T>G
ENST00000684502.1:n.1396T>G
ENST00000366578.6:c.1447T>G MANE Select	ENSP00000355537.4:p.Cys483Gly
ENST00000492634.6:n.1377T>G
ENST00000542672.6:c.1447T>G	ENSP00000443495.1:p.Cys483Gly
ENST00000651091.1:c.1137T>G	ENSP00000498677.1:n.1137T>G
ENST00000651275.1:c.1339T>G	ENSP00000498926.1:p.Cys447Gly
ENST00000651781.1:c.527T>G
ENST00000651786.1:c.*819T>G	ENSP00000498364.1:n.*819T>G
ENST00000652096.1:c.*852T>G	ENSP00000498896.1:n.*852T>G
ENST00000366578.5:c.1447T>G	ENSP00000355537.4:p.Cys483Gly
ENST00000492101.1:n.8T>G
ENST00000542672.5:c.1447T>G	ENSP00000443495.1:p.Cys483Gly
ENST00000546208.5:c.823T>G	ENSP00000438384.2:p.Cys275Gly
NM_001103.3:c.1447T>G	NP_001094.1:p.Cys483Gly
NM_001278343.1:c.1447T>G	NP_001265272.1:p.Cys483Gly
NM_001278344.1:c.823T>G	NP_001265273.1:p.Cys275Gly
NM_001278343.2:c.1447T>G	NP_001265272.1:p.Cys483Gly
NM_001103.4:c.1447T>G MANE Select	NP_001094.1:p.Cys483Gly
NM_001278344.2:c.823T>G	NP_001265273.1:p.Cys275Gly