Canonical Allele Identifier: CA2651182841

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762645-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762645C>G , CM000663.2:g.236762645C>G	GRCh38
NC_000001.10:g.236925945C>G , CM000663.1:g.236925945C>G	GRCh37
NC_000001.9:g.234992568C>G	NCBI36
NG_009081.1:g.81176C>G
NG_009081.2:g.103505C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*26C>G	ENSP00000443495.1:n.*26C>G
ENST00000461367.2:n.1007C>G
ENST00000492634.7:n.2641C>G
ENST00000682015.1:c.*26C>G	ENSP00000506961.1:n.*26C>G
ENST00000682490.1:n.629C>G
ENST00000682692.1:n.3806C>G
ENST00000682966.1:n.8352C>G
ENST00000683111.1:c.*1997C>G	ENSP00000507913.1:n.*1997C>G
ENST00000683322.1:n.4063C>G
ENST00000683805.1:n.1502C>G
ENST00000684050.1:n.5349C>G
ENST00000684122.1:n.2145C>G
ENST00000684286.1:n.4266C>G
ENST00000684502.1:n.4008C>G
ENST00000684763.1:n.1326C>G
ENST00000366578.6:c.*26C>G MANE Select	ENSP00000355537.4:n.*26C>G
ENST00000492634.6:n.2641C>G
ENST00000542672.6:c.*26C>G	ENSP00000443495.1:n.*26C>G
ENST00000651275.1:c.2603C>G	ENSP00000498926.1:n.2603C>G
ENST00000651781.1:c.1791C>G
ENST00000651786.1:c.*2083C>G	ENSP00000498364.1:n.*2083C>G
ENST00000652096.1:c.*2116C>G	ENSP00000498896.1:n.*2116C>G
ENST00000366578.5:c.*26C>G	ENSP00000355537.4:n.*26C>G
ENST00000542672.5:c.*26C>G	ENSP00000443495.1:n.*26C>G
ENST00000546208.5:c.*26C>G	ENSP00000438384.2:n.*26C>G
NM_001103.3:c.*26C>G	NP_001094.1:n.*26C>G
NM_001278343.1:c.*26C>G	NP_001265272.1:n.*26C>G
NM_001278344.1:c.*26C>G	NP_001265273.1:n.*26C>G
NM_001278343.2:c.*26C>G	NP_001265272.1:n.*26C>G
NM_001103.4:c.*26C>G MANE Select	NP_001094.1:n.*26C>G
NM_001278344.2:c.*26C>G	NP_001265273.1:n.*26C>G