Canonical Allele Identifier: CA345383707

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236910972T>G (hg19) ; chr1:g.236747672T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747672T>G , CM000663.2:g.236747672T>G	GRCh38
NC_000001.10:g.236910972T>G , CM000663.1:g.236910972T>G	GRCh37
NC_000001.9:g.234977595T>G	NCBI36
NG_009081.1:g.66203T>G
NG_009081.2:g.88532T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1412T>G	ENSP00000443495.1:p.Leu471Arg
ENST00000492634.7:n.1342T>G
ENST00000682015.1:c.1319T>G	ENSP00000506961.1:p.Leu440Arg
ENST00000682692.1:n.1159T>G
ENST00000682966.1:n.7053T>G
ENST00000683111.1:c.*698T>G	ENSP00000507913.1:n.*698T>G
ENST00000683322.1:n.2764T>G
ENST00000684050.1:n.4050T>G
ENST00000684286.1:n.2967T>G
ENST00000684502.1:n.1361T>G
ENST00000366578.6:c.1412T>G MANE Select	ENSP00000355537.4:p.Leu471Arg
ENST00000492634.6:n.1342T>G
ENST00000542672.6:c.1412T>G	ENSP00000443495.1:p.Leu471Arg
ENST00000651091.1:c.1102T>G	ENSP00000498677.1:n.1102T>G
ENST00000651275.1:c.1304T>G	ENSP00000498926.1:p.Leu435Arg
ENST00000651781.1:c.492T>G
ENST00000651786.1:c.*784T>G	ENSP00000498364.1:n.*784T>G
ENST00000652096.1:c.*817T>G	ENSP00000498896.1:n.*817T>G
ENST00000366578.5:c.1412T>G	ENSP00000355537.4:p.Leu471Arg
ENST00000542672.5:c.1412T>G	ENSP00000443495.1:p.Leu471Arg
ENST00000546208.5:c.788T>G	ENSP00000438384.2:p.Leu263Arg
NM_001103.3:c.1412T>G	NP_001094.1:p.Leu471Arg
NM_001278343.1:c.1412T>G	NP_001265272.1:p.Leu471Arg
NM_001278344.1:c.788T>G	NP_001265273.1:p.Leu263Arg
NM_001278343.2:c.1412T>G	NP_001265272.1:p.Leu471Arg
NM_001103.4:c.1412T>G MANE Select	NP_001094.1:p.Leu471Arg
NM_001278344.2:c.788T>G	NP_001265273.1:p.Leu263Arg