Canonical Allele Identifier: CA345386965

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236754042-A-C
• MyVariant Identifiers: chr1:g.236917342A>C (hg19) ; chr1:g.236754042A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754042A>C , CM000663.2:g.236754042A>C	GRCh38
NC_000001.10:g.236917342A>C , CM000663.1:g.236917342A>C	GRCh37
NC_000001.9:g.234983965A>C	NCBI36
NG_009081.1:g.72573A>C
NG_009081.2:g.94902A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1935A>C	ENSP00000443495.1:p.Gln645His
ENST00000461367.2:n.231A>C
ENST00000492634.7:n.1865A>C
ENST00000682015.1:c.1842A>C	ENSP00000506961.1:p.Gln614His
ENST00000682692.1:n.3030A>C
ENST00000682966.1:n.7576A>C
ENST00000683111.1:c.*1221A>C	ENSP00000507913.1:n.*1221A>C
ENST00000683322.1:n.3287A>C
ENST00000684050.1:n.4573A>C
ENST00000684286.1:n.3490A>C
ENST00000684502.1:n.3232A>C
ENST00000684763.1:n.550A>C
ENST00000366578.6:c.1935A>C MANE Select	ENSP00000355537.4:p.Gln645His
ENST00000492634.6:n.1865A>C
ENST00000542672.6:c.1935A>C	ENSP00000443495.1:p.Gln645His
ENST00000651091.1:c.1625A>C	ENSP00000498677.1:n.1625A>C
ENST00000651275.1:c.1827A>C	ENSP00000498926.1:p.Gln609His
ENST00000651781.1:c.1015A>C
ENST00000651786.1:c.*1307A>C	ENSP00000498364.1:n.*1307A>C
ENST00000652096.1:c.*1340A>C	ENSP00000498896.1:n.*1340A>C
ENST00000366578.5:c.1935A>C	ENSP00000355537.4:p.Gln645His
ENST00000461367.1:n.144A>C
ENST00000542672.5:c.1935A>C	ENSP00000443495.1:p.Gln645His
ENST00000546208.5:c.1311A>C	ENSP00000438384.2:p.Gln437His
NM_001103.3:c.1935A>C	NP_001094.1:p.Gln645His
NM_001278343.1:c.1935A>C	NP_001265272.1:p.Gln645His
NM_001278344.1:c.1311A>C	NP_001265273.1:p.Gln437His
NM_001278343.2:c.1935A>C	NP_001265272.1:p.Gln645His
NM_001103.4:c.1935A>C MANE Select	NP_001094.1:p.Gln645His
NM_001278344.2:c.1311A>C	NP_001265273.1:p.Gln437His