Canonical Allele Identifier: CA345387413

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 2950752
• ClinVar RCV Id: RCV003810062
• MyVariant Identifiers: chr1:g.236918333C>G (hg19) ; chr1:g.236755033C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755033C>G , CM000663.2:g.236755033C>G	GRCh38
NC_000001.10:g.236918333C>G , CM000663.1:g.236918333C>G	GRCh37
NC_000001.9:g.234984956C>G	NCBI36
NG_009081.1:g.73564C>G
NG_009081.2:g.95893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1989C>G	ENSP00000443495.1:p.Ser663Arg
ENST00000461367.2:n.285C>G
ENST00000492634.7:n.1919C>G
ENST00000682015.1:c.1896C>G	ENSP00000506961.1:p.Ser632Arg
ENST00000682692.1:n.3084C>G
ENST00000682966.1:n.7630C>G
ENST00000683111.1:c.*1275C>G	ENSP00000507913.1:n.*1275C>G
ENST00000683322.1:n.3341C>G
ENST00000683805.1:n.780C>G
ENST00000684050.1:n.4627C>G
ENST00000684122.1:n.136C>G
ENST00000684286.1:n.3544C>G
ENST00000684502.1:n.3286C>G
ENST00000684763.1:n.604C>G
ENST00000366578.6:c.1989C>G MANE Select	ENSP00000355537.4:p.Ser663Arg
ENST00000492634.6:n.1919C>G
ENST00000542672.6:c.1989C>G	ENSP00000443495.1:p.Ser663Arg
ENST00000651091.1:c.1679C>G	ENSP00000498677.1:n.1679C>G
ENST00000651275.1:c.1881C>G	ENSP00000498926.1:p.Ser627Arg
ENST00000651781.1:c.1069C>G
ENST00000651786.1:c.*1361C>G	ENSP00000498364.1:n.*1361C>G
ENST00000652096.1:c.*1394C>G	ENSP00000498896.1:n.*1394C>G
ENST00000366578.5:c.1989C>G	ENSP00000355537.4:p.Ser663Arg
ENST00000461367.1:n.198C>G
ENST00000542672.5:c.1989C>G	ENSP00000443495.1:p.Ser663Arg
ENST00000546208.5:c.1365C>G	ENSP00000438384.2:p.Ser455Arg
NM_001103.3:c.1989C>G	NP_001094.1:p.Ser663Arg
NM_001278343.1:c.1989C>G	NP_001265272.1:p.Ser663Arg
NM_001278344.1:c.1365C>G	NP_001265273.1:p.Ser455Arg
NM_001278343.2:c.1989C>G	NP_001265272.1:p.Ser663Arg
NM_001103.4:c.1989C>G MANE Select	NP_001094.1:p.Ser663Arg
NM_001278344.2:c.1365C>G	NP_001265273.1:p.Ser455Arg