Canonical Allele Identifier: CA2651182066

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236757424-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757424A>G , CM000663.2:g.236757424A>G	GRCh38
NC_000001.10:g.236920724A>G , CM000663.1:g.236920724A>G	GRCh37
NC_000001.9:g.234987347A>G	NCBI36
NG_009081.1:g.75955A>G
NG_009081.2:g.98284A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2155-62A>G	ENSP00000443495.1:n.2155-62A>G
ENST00000461367.2:n.451-62A>G
ENST00000492634.7:n.2085-62A>G
ENST00000682015.1:c.2062-62A>G	ENSP00000506961.1:n.2062-62A>G
ENST00000682490.1:n.73-62A>G
ENST00000682692.1:n.3250-62A>G
ENST00000682966.1:n.7796-62A>G
ENST00000683111.1:c.*1441-62A>G	ENSP00000507913.1:n.*1441-62A>G
ENST00000683322.1:n.3507-62A>G
ENST00000683805.1:n.946-62A>G
ENST00000684050.1:n.4793-62A>G
ENST00000684122.1:n.302-62A>G
ENST00000684286.1:n.3710-62A>G
ENST00000684502.1:n.3452-62A>G
ENST00000684763.1:n.770-62A>G
ENST00000366578.6:c.2155-62A>G MANE Select	ENSP00000355537.4:n.2155-62A>G
ENST00000492634.6:n.2085-62A>G
ENST00000542672.6:c.2155-62A>G	ENSP00000443495.1:n.2155-62A>G
ENST00000651091.1:c.1845-62A>G	ENSP00000498677.1:n.1845-62A>G
ENST00000651275.1:c.2047-62A>G	ENSP00000498926.1:n.2047-62A>G
ENST00000651781.1:c.1235-62A>G
ENST00000651786.1:c.*1527-62A>G	ENSP00000498364.1:n.*1527-62A>G
ENST00000652096.1:c.*1560-62A>G	ENSP00000498896.1:n.*1560-62A>G
ENST00000366578.5:c.2155-62A>G	ENSP00000355537.4:n.2155-62A>G
ENST00000461367.1:n.364-62A>G
ENST00000542672.5:c.2155-62A>G	ENSP00000443495.1:n.2155-62A>G
ENST00000546208.5:c.1531-62A>G	ENSP00000438384.2:n.1531-62A>G
NM_001103.3:c.2155-62A>G	NP_001094.1:n.2155-62A>G
NM_001278343.1:c.2155-62A>G	NP_001265272.1:n.2155-62A>G
NM_001278344.1:c.1531-62A>G	NP_001265273.1:n.1531-62A>G
NM_001278343.2:c.2155-62A>G	NP_001265272.1:n.2155-62A>G
NM_001103.4:c.2155-62A>G MANE Select	NP_001094.1:n.2155-62A>G
NM_001278344.2:c.1531-62A>G	NP_001265273.1:n.1531-62A>G