Canonical Allele Identifier: CA345383960

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911017T>A (hg19) ; chr1:g.236747717T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747717T>A , CM000663.2:g.236747717T>A	GRCh38
NC_000001.10:g.236911017T>A , CM000663.1:g.236911017T>A	GRCh37
NC_000001.9:g.234977640T>A	NCBI36
NG_009081.1:g.66248T>A
NG_009081.2:g.88577T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1457T>A	ENSP00000443495.1:p.Ile486Asn
ENST00000492634.7:n.1387T>A
ENST00000682015.1:c.1364T>A	ENSP00000506961.1:p.Ile455Asn
ENST00000682692.1:n.1204T>A
ENST00000682966.1:n.7098T>A
ENST00000683111.1:c.*743T>A	ENSP00000507913.1:n.*743T>A
ENST00000683322.1:n.2809T>A
ENST00000684050.1:n.4095T>A
ENST00000684286.1:n.3012T>A
ENST00000684502.1:n.1406T>A
ENST00000366578.6:c.1457T>A MANE Select	ENSP00000355537.4:p.Ile486Asn
ENST00000492634.6:n.1387T>A
ENST00000542672.6:c.1457T>A	ENSP00000443495.1:p.Ile486Asn
ENST00000651091.1:c.1147T>A	ENSP00000498677.1:n.1147T>A
ENST00000651275.1:c.1349T>A	ENSP00000498926.1:p.Ile450Asn
ENST00000651781.1:c.537T>A
ENST00000651786.1:c.*829T>A	ENSP00000498364.1:n.*829T>A
ENST00000652096.1:c.*862T>A	ENSP00000498896.1:n.*862T>A
ENST00000366578.5:c.1457T>A	ENSP00000355537.4:p.Ile486Asn
ENST00000492101.1:n.18T>A
ENST00000542672.5:c.1457T>A	ENSP00000443495.1:p.Ile486Asn
ENST00000546208.5:c.833T>A	ENSP00000438384.2:p.Ile278Asn
NM_001103.3:c.1457T>A	NP_001094.1:p.Ile486Asn
NM_001278343.1:c.1457T>A	NP_001265272.1:p.Ile486Asn
NM_001278344.1:c.833T>A	NP_001265273.1:p.Ile278Asn
NM_001278343.2:c.1457T>A	NP_001265272.1:p.Ile486Asn
NM_001103.4:c.1457T>A MANE Select	NP_001094.1:p.Ile486Asn
NM_001278344.2:c.833T>A	NP_001265273.1:p.Ile278Asn