Canonical Allele Identifier: CA345392152

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762495-T-G
• MyVariant Identifiers: chr1:g.236925795T>G (hg19) ; chr1:g.236762495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762495T>G , CM000663.2:g.236762495T>G	GRCh38
NC_000001.10:g.236925795T>G , CM000663.1:g.236925795T>G	GRCh37
NC_000001.9:g.234992418T>G	NCBI36
NG_009081.1:g.81026T>G
NG_009081.2:g.103355T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2561T>G	ENSP00000443495.1:p.Leu854Arg
ENST00000461367.2:n.857T>G
ENST00000492634.7:n.2491T>G
ENST00000682015.1:c.2468T>G	ENSP00000506961.1:p.Leu823Arg
ENST00000682490.1:n.479T>G
ENST00000682692.1:n.3656T>G
ENST00000682966.1:n.8202T>G
ENST00000683111.1:c.*1847T>G	ENSP00000507913.1:n.*1847T>G
ENST00000683322.1:n.3913T>G
ENST00000683805.1:n.1352T>G
ENST00000684050.1:n.5199T>G
ENST00000684122.1:n.1995T>G
ENST00000684286.1:n.4116T>G
ENST00000684502.1:n.3858T>G
ENST00000684763.1:n.1176T>G
ENST00000366578.6:c.2561T>G MANE Select	ENSP00000355537.4:p.Leu854Arg
ENST00000492634.6:n.2491T>G
ENST00000542672.6:c.2561T>G	ENSP00000443495.1:p.Leu854Arg
ENST00000651091.1:c.2251T>G	ENSP00000498677.1:n.2251T>G
ENST00000651275.1:c.2453T>G	ENSP00000498926.1:p.Leu818Arg
ENST00000651781.1:c.1641T>G
ENST00000651786.1:c.*1933T>G	ENSP00000498364.1:n.*1933T>G
ENST00000652096.1:c.*1966T>G	ENSP00000498896.1:n.*1966T>G
ENST00000366578.5:c.2561T>G	ENSP00000355537.4:p.Leu854Arg
ENST00000461367.1:n.770T>G
ENST00000542672.5:c.2561T>G	ENSP00000443495.1:p.Leu854Arg
ENST00000546208.5:c.1937T>G	ENSP00000438384.2:p.Leu646Arg
NM_001103.3:c.2561T>G	NP_001094.1:p.Leu854Arg
NM_001278343.1:c.2561T>G	NP_001265272.1:p.Leu854Arg
NM_001278344.1:c.1937T>G	NP_001265273.1:p.Leu646Arg
NM_001278343.2:c.2561T>G	NP_001265272.1:p.Leu854Arg
NM_001103.4:c.2561T>G MANE Select	NP_001094.1:p.Leu854Arg
NM_001278344.2:c.1937T>G	NP_001265273.1:p.Leu646Arg