Canonical Allele Identifier: CA423809576

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911048T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747748T>A , CM000663.2:g.236747748T>A	GRCh38
NC_000001.10:g.236911048T>A , CM000663.1:g.236911048T>A	GRCh37
NC_000001.9:g.234977671T>A	NCBI36
NG_009081.1:g.66279T>A
NG_009081.2:g.88608T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1488T>A	ENSP00000443495.1:p.Leu496=
ENST00000492634.7:n.1418T>A
ENST00000682015.1:c.1395T>A	ENSP00000506961.1:p.Leu465=
ENST00000682692.1:n.1235T>A
ENST00000682966.1:n.7129T>A
ENST00000683111.1:c.*774T>A	ENSP00000507913.1:n.*774T>A
ENST00000683322.1:n.2840T>A
ENST00000684050.1:n.4126T>A
ENST00000684286.1:n.3043T>A
ENST00000684502.1:n.1437T>A
ENST00000366578.6:c.1488T>A MANE Select	ENSP00000355537.4:p.Leu496=
ENST00000492634.6:n.1418T>A
ENST00000542672.6:c.1488T>A	ENSP00000443495.1:p.Leu496=
ENST00000651091.1:c.1178T>A	ENSP00000498677.1:n.1178T>A
ENST00000651275.1:c.1380T>A	ENSP00000498926.1:p.Leu460=
ENST00000651781.1:c.568T>A
ENST00000651786.1:c.*860T>A	ENSP00000498364.1:n.*860T>A
ENST00000652096.1:c.*893T>A	ENSP00000498896.1:n.*893T>A
ENST00000366578.5:c.1488T>A	ENSP00000355537.4:p.Leu496=
ENST00000492101.1:n.49T>A
ENST00000542672.5:c.1488T>A	ENSP00000443495.1:p.Leu496=
ENST00000546208.5:c.864T>A	ENSP00000438384.2:p.Leu288=
NM_001103.3:c.1488T>A	NP_001094.1:p.Leu496=
NM_001278343.1:c.1488T>A	NP_001265272.1:p.Leu496=
NM_001278344.1:c.864T>A	NP_001265273.1:p.Leu288=
NM_001278343.2:c.1488T>A	NP_001265272.1:p.Leu496=
NM_001103.4:c.1488T>A MANE Select	NP_001094.1:p.Leu496=
NM_001278344.2:c.864T>A	NP_001265273.1:p.Leu288=