Canonical Allele Identifier: CA2651182863

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762691-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762691A>G , CM000663.2:g.236762691A>G	GRCh38
NC_000001.10:g.236925991A>G , CM000663.1:g.236925991A>G	GRCh37
NC_000001.9:g.234992614A>G	NCBI36
NG_009081.1:g.81222A>G
NG_009081.2:g.103551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*72A>G	ENSP00000443495.1:n.*72A>G
ENST00000461367.2:n.1053A>G
ENST00000492634.7:n.2687A>G
ENST00000682015.1:c.*72A>G	ENSP00000506961.1:n.*72A>G
ENST00000682490.1:n.675A>G
ENST00000682692.1:n.3852A>G
ENST00000682966.1:n.8398A>G
ENST00000683111.1:c.*2043A>G	ENSP00000507913.1:n.*2043A>G
ENST00000683322.1:n.4109A>G
ENST00000683805.1:n.1548A>G
ENST00000684050.1:n.5395A>G
ENST00000684122.1:n.2191A>G
ENST00000684286.1:n.4312A>G
ENST00000684502.1:n.4054A>G
ENST00000684763.1:n.1372A>G
ENST00000366578.6:c.*72A>G MANE Select	ENSP00000355537.4:n.*72A>G
ENST00000492634.6:n.2687A>G
ENST00000542672.6:c.*72A>G	ENSP00000443495.1:n.*72A>G
ENST00000651275.1:c.2649A>G	ENSP00000498926.1:n.2649A>G
ENST00000651781.1:c.1837A>G
ENST00000651786.1:c.*2129A>G	ENSP00000498364.1:n.*2129A>G
ENST00000652096.1:c.*2162A>G	ENSP00000498896.1:n.*2162A>G
ENST00000366578.5:c.*72A>G	ENSP00000355537.4:n.*72A>G
ENST00000542672.5:c.*72A>G	ENSP00000443495.1:n.*72A>G
ENST00000546208.5:c.*72A>G	ENSP00000438384.2:n.*72A>G
NM_001103.3:c.*72A>G	NP_001094.1:n.*72A>G
NM_001278343.1:c.*72A>G	NP_001265272.1:n.*72A>G
NM_001278344.1:c.*72A>G	NP_001265273.1:n.*72A>G
NM_001278343.2:c.*72A>G	NP_001265272.1:n.*72A>G
NM_001103.4:c.*72A>G MANE Select	NP_001094.1:n.*72A>G
NM_001278344.2:c.*72A>G	NP_001265273.1:n.*72A>G