Canonical Allele Identifier: CA345392149

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925795T>A (hg19) ; chr1:g.236762495T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2561T>A	ENSP00000443495.1:p.Leu854Gln
ENST00000461367.2:n.857T>A
ENST00000492634.7:n.2491T>A
ENST00000682015.1:c.2468T>A	ENSP00000506961.1:p.Leu823Gln
ENST00000682490.1:n.479T>A
ENST00000682692.1:n.3656T>A
ENST00000682966.1:n.8202T>A
ENST00000683111.1:c.*1847T>A	ENSP00000507913.1:n.*1847T>A
ENST00000683322.1:n.3913T>A
ENST00000683805.1:n.1352T>A
ENST00000684050.1:n.5199T>A
ENST00000684122.1:n.1995T>A
ENST00000684286.1:n.4116T>A
ENST00000684502.1:n.3858T>A
ENST00000684763.1:n.1176T>A
ENST00000366578.6:c.2561T>A MANE Select	ENSP00000355537.4:p.Leu854Gln
ENST00000492634.6:n.2491T>A
ENST00000542672.6:c.2561T>A	ENSP00000443495.1:p.Leu854Gln
ENST00000651091.1:c.2251T>A	ENSP00000498677.1:n.2251T>A
ENST00000651275.1:c.2453T>A	ENSP00000498926.1:p.Leu818Gln
ENST00000651781.1:c.1641T>A
ENST00000651786.1:c.*1933T>A	ENSP00000498364.1:n.*1933T>A
ENST00000652096.1:c.*1966T>A	ENSP00000498896.1:n.*1966T>A
ENST00000366578.5:c.2561T>A	ENSP00000355537.4:p.Leu854Gln
ENST00000461367.1:n.770T>A
ENST00000542672.5:c.2561T>A	ENSP00000443495.1:p.Leu854Gln
ENST00000546208.5:c.1937T>A	ENSP00000438384.2:p.Leu646Gln
NM_001103.3:c.2561T>A	NP_001094.1:p.Leu854Gln
NM_001278343.1:c.2561T>A	NP_001265272.1:p.Leu854Gln
NM_001278344.1:c.1937T>A	NP_001265273.1:p.Leu646Gln
NM_001278343.2:c.2561T>A	NP_001265272.1:p.Leu854Gln
NM_001103.4:c.2561T>A MANE Select	NP_001094.1:p.Leu854Gln
NM_001278344.2:c.1937T>A	NP_001265273.1:p.Leu646Gln