Canonical Allele Identifier: CA733216722

Gene: ACTN2

Linked Data

• dbSNP Id: rs1382142676
• gnomAD v4: 1-236762657-A-G
• MyVariant Identifiers: chr1:g.236925957A>G (hg19) ; chr1:g.236762657A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762657A>G , CM000663.2:g.236762657A>G	GRCh38
NC_000001.10:g.236925957A>G , CM000663.1:g.236925957A>G	GRCh37
NC_000001.9:g.234992580A>G	NCBI36
NG_009081.1:g.81188A>G
NG_009081.2:g.103517A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*38A>G	ENSP00000443495.1:n.*38A>G
ENST00000461367.2:n.1019A>G
ENST00000492634.7:n.2653A>G
ENST00000682015.1:c.*38A>G	ENSP00000506961.1:n.*38A>G
ENST00000682490.1:n.641A>G
ENST00000682692.1:n.3818A>G
ENST00000682966.1:n.8364A>G
ENST00000683111.1:c.*2009A>G	ENSP00000507913.1:n.*2009A>G
ENST00000683322.1:n.4075A>G
ENST00000683805.1:n.1514A>G
ENST00000684050.1:n.5361A>G
ENST00000684122.1:n.2157A>G
ENST00000684286.1:n.4278A>G
ENST00000684502.1:n.4020A>G
ENST00000684763.1:n.1338A>G
ENST00000366578.6:c.*38A>G MANE Select	ENSP00000355537.4:n.*38A>G
ENST00000492634.6:n.2653A>G
ENST00000542672.6:c.*38A>G	ENSP00000443495.1:n.*38A>G
ENST00000651275.1:c.2615A>G	ENSP00000498926.1:n.2615A>G
ENST00000651781.1:c.1803A>G
ENST00000651786.1:c.*2095A>G	ENSP00000498364.1:n.*2095A>G
ENST00000652096.1:c.*2128A>G	ENSP00000498896.1:n.*2128A>G
ENST00000366578.5:c.*38A>G	ENSP00000355537.4:n.*38A>G
ENST00000542672.5:c.*38A>G	ENSP00000443495.1:n.*38A>G
ENST00000546208.5:c.*38A>G	ENSP00000438384.2:n.*38A>G
NM_001103.3:c.*38A>G	NP_001094.1:n.*38A>G
NM_001278343.1:c.*38A>G	NP_001265272.1:n.*38A>G
NM_001278344.1:c.*38A>G	NP_001265273.1:n.*38A>G
NM_001278343.2:c.*38A>G	NP_001265272.1:n.*38A>G
NM_001103.4:c.*38A>G MANE Select	NP_001094.1:n.*38A>G
NM_001278344.2:c.*38A>G	NP_001265273.1:n.*38A>G