Canonical Allele Identifier: CA345384139

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236911046C>A (hg19) ; chr1:g.236747746C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747746C>A , CM000663.2:g.236747746C>A	GRCh38
NC_000001.10:g.236911046C>A , CM000663.1:g.236911046C>A	GRCh37
NC_000001.9:g.234977669C>A	NCBI36
NG_009081.1:g.66277C>A
NG_009081.2:g.88606C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1486C>A	ENSP00000443495.1:p.Leu496Ile
ENST00000492634.7:n.1416C>A
ENST00000682015.1:c.1393C>A	ENSP00000506961.1:p.Leu465Ile
ENST00000682692.1:n.1233C>A
ENST00000682966.1:n.7127C>A
ENST00000683111.1:c.*772C>A	ENSP00000507913.1:n.*772C>A
ENST00000683322.1:n.2838C>A
ENST00000684050.1:n.4124C>A
ENST00000684286.1:n.3041C>A
ENST00000684502.1:n.1435C>A
ENST00000366578.6:c.1486C>A MANE Select	ENSP00000355537.4:p.Leu496Ile
ENST00000492634.6:n.1416C>A
ENST00000542672.6:c.1486C>A	ENSP00000443495.1:p.Leu496Ile
ENST00000651091.1:c.1176C>A	ENSP00000498677.1:n.1176C>A
ENST00000651275.1:c.1378C>A	ENSP00000498926.1:p.Leu460Ile
ENST00000651781.1:c.566C>A
ENST00000651786.1:c.*858C>A	ENSP00000498364.1:n.*858C>A
ENST00000652096.1:c.*891C>A	ENSP00000498896.1:n.*891C>A
ENST00000366578.5:c.1486C>A	ENSP00000355537.4:p.Leu496Ile
ENST00000492101.1:n.47C>A
ENST00000542672.5:c.1486C>A	ENSP00000443495.1:p.Leu496Ile
ENST00000546208.5:c.862C>A	ENSP00000438384.2:p.Leu288Ile
NM_001103.3:c.1486C>A	NP_001094.1:p.Leu496Ile
NM_001278343.1:c.1486C>A	NP_001265272.1:p.Leu496Ile
NM_001278344.1:c.862C>A	NP_001265273.1:p.Leu288Ile
NM_001278343.2:c.1486C>A	NP_001265272.1:p.Leu496Ile
NM_001103.4:c.1486C>A MANE Select	NP_001094.1:p.Leu496Ile
NM_001278344.2:c.862C>A	NP_001265273.1:p.Leu288Ile