Canonical Allele Identifier: CA345387556

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918396C>G (hg19) ; chr1:g.236755096C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755096C>G , CM000663.2:g.236755096C>G	GRCh38
NC_000001.10:g.236918396C>G , CM000663.1:g.236918396C>G	GRCh37
NC_000001.9:g.234985019C>G	NCBI36
NG_009081.1:g.73627C>G
NG_009081.2:g.95956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2052C>G	ENSP00000443495.1:p.Asn684Lys
ENST00000461367.2:n.348C>G
ENST00000492634.7:n.1982C>G
ENST00000682015.1:c.1959C>G	ENSP00000506961.1:p.Asn653Lys
ENST00000682692.1:n.3147C>G
ENST00000682966.1:n.7693C>G
ENST00000683111.1:c.*1338C>G	ENSP00000507913.1:n.*1338C>G
ENST00000683322.1:n.3404C>G
ENST00000683805.1:n.843C>G
ENST00000684050.1:n.4690C>G
ENST00000684122.1:n.199C>G
ENST00000684286.1:n.3607C>G
ENST00000684502.1:n.3349C>G
ENST00000684763.1:n.667C>G
ENST00000366578.6:c.2052C>G MANE Select	ENSP00000355537.4:p.Asn684Lys
ENST00000492634.6:n.1982C>G
ENST00000542672.6:c.2052C>G	ENSP00000443495.1:p.Asn684Lys
ENST00000651091.1:c.1742C>G	ENSP00000498677.1:n.1742C>G
ENST00000651275.1:c.1944C>G	ENSP00000498926.1:p.Asn648Lys
ENST00000651781.1:c.1132C>G
ENST00000651786.1:c.*1424C>G	ENSP00000498364.1:n.*1424C>G
ENST00000652096.1:c.*1457C>G	ENSP00000498896.1:n.*1457C>G
ENST00000366578.5:c.2052C>G	ENSP00000355537.4:p.Asn684Lys
ENST00000461367.1:n.261C>G
ENST00000542672.5:c.2052C>G	ENSP00000443495.1:p.Asn684Lys
ENST00000546208.5:c.1428C>G	ENSP00000438384.2:p.Asn476Lys
NM_001103.3:c.2052C>G	NP_001094.1:p.Asn684Lys
NM_001278343.1:c.2052C>G	NP_001265272.1:p.Asn684Lys
NM_001278344.1:c.1428C>G	NP_001265273.1:p.Asn476Lys
NM_001278343.2:c.2052C>G	NP_001265272.1:p.Asn684Lys
NM_001103.4:c.2052C>G MANE Select	NP_001094.1:p.Asn684Lys
NM_001278344.2:c.1428C>G	NP_001265273.1:p.Asn476Lys