Canonical Allele Identifier: CA2487053285

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659748130
• gnomAD v3: 1-236762715-A-G
• gnomAD v4: 1-236762715-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762715A>G , CM000663.2:g.236762715A>G	GRCh38
NC_000001.10:g.236926015A>G , CM000663.1:g.236926015A>G	GRCh37
NC_000001.9:g.234992638A>G	NCBI36
NG_009081.1:g.81246A>G
NG_009081.2:g.103575A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*96A>G	ENSP00000443495.1:n.*96A>G
ENST00000461367.2:n.1077A>G
ENST00000492634.7:n.2711A>G
ENST00000682015.1:c.*96A>G	ENSP00000506961.1:n.*96A>G
ENST00000682490.1:n.699A>G
ENST00000682692.1:n.3876A>G
ENST00000682966.1:n.8422A>G
ENST00000683111.1:c.*2067A>G	ENSP00000507913.1:n.*2067A>G
ENST00000683322.1:n.4133A>G
ENST00000683805.1:n.1572A>G
ENST00000684050.1:n.5419A>G
ENST00000684122.1:n.2215A>G
ENST00000684286.1:n.4336A>G
ENST00000684502.1:n.4078A>G
ENST00000684763.1:n.1396A>G
ENST00000366578.6:c.*96A>G MANE Select	ENSP00000355537.4:n.*96A>G
ENST00000492634.6:n.2711A>G
ENST00000542672.6:c.*96A>G	ENSP00000443495.1:n.*96A>G
ENST00000651275.1:c.2673A>G	ENSP00000498926.1:n.2673A>G
ENST00000651781.1:c.1861A>G
ENST00000652096.1:c.*2186A>G	ENSP00000498896.1:n.*2186A>G
ENST00000366578.5:c.*96A>G	ENSP00000355537.4:n.*96A>G
ENST00000542672.5:c.*96A>G	ENSP00000443495.1:n.*96A>G
ENST00000546208.5:c.*96A>G	ENSP00000438384.2:n.*96A>G
NM_001103.3:c.*96A>G	NP_001094.1:n.*96A>G
NM_001278343.1:c.*96A>G	NP_001265272.1:n.*96A>G
NM_001278344.1:c.*96A>G	NP_001265273.1:n.*96A>G
NM_001278343.2:c.*96A>G	NP_001265272.1:n.*96A>G
NM_001103.4:c.*96A>G MANE Select	NP_001094.1:n.*96A>G
NM_001278344.2:c.*96A>G	NP_001265273.1:n.*96A>G