Canonical Allele Identifier: CA345387785

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918496G>C (hg19) ; chr1:g.236755196G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755196G>C , CM000663.2:g.236755196G>C	GRCh38
NC_000001.10:g.236918496G>C , CM000663.1:g.236918496G>C	GRCh37
NC_000001.9:g.234985119G>C	NCBI36
NG_009081.1:g.73727G>C
NG_009081.2:g.96056G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2152G>C	ENSP00000443495.1:p.Glu718Gln
ENST00000461367.2:n.448G>C
ENST00000492634.7:n.2082G>C
ENST00000682015.1:c.2059G>C	ENSP00000506961.1:p.Glu687Gln
ENST00000682692.1:n.3247G>C
ENST00000682966.1:n.7793G>C
ENST00000683111.1:c.*1438G>C	ENSP00000507913.1:n.*1438G>C
ENST00000683322.1:n.3504G>C
ENST00000683805.1:n.943G>C
ENST00000684050.1:n.4790G>C
ENST00000684122.1:n.299G>C
ENST00000684286.1:n.3707G>C
ENST00000684502.1:n.3449G>C
ENST00000684763.1:n.767G>C
ENST00000366578.6:c.2152G>C MANE Select	ENSP00000355537.4:p.Glu718Gln
ENST00000492634.6:n.2082G>C
ENST00000542672.6:c.2152G>C	ENSP00000443495.1:p.Glu718Gln
ENST00000651091.1:c.1842G>C	ENSP00000498677.1:n.1842G>C
ENST00000651275.1:c.2044G>C	ENSP00000498926.1:p.Glu682Gln
ENST00000651781.1:c.1232G>C
ENST00000651786.1:c.*1524G>C	ENSP00000498364.1:n.*1524G>C
ENST00000652096.1:c.*1557G>C	ENSP00000498896.1:n.*1557G>C
ENST00000366578.5:c.2152G>C	ENSP00000355537.4:p.Glu718Gln
ENST00000461367.1:n.361G>C
ENST00000542672.5:c.2152G>C	ENSP00000443495.1:p.Glu718Gln
ENST00000546208.5:c.1528G>C	ENSP00000438384.2:p.Glu510Gln
NM_001103.3:c.2152G>C	NP_001094.1:p.Glu718Gln
NM_001278343.1:c.2152G>C	NP_001265272.1:p.Glu718Gln
NM_001278344.1:c.1528G>C	NP_001265273.1:p.Glu510Gln
NM_001278343.2:c.2152G>C	NP_001265272.1:p.Glu718Gln
NM_001103.4:c.2152G>C MANE Select	NP_001094.1:p.Glu718Gln
NM_001278344.2:c.1528G>C	NP_001265273.1:p.Glu510Gln