Canonical Allele Identifier: CA345387720

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918469G>A (hg19) ; chr1:g.236755169G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755169G>A , CM000663.2:g.236755169G>A	GRCh38
NC_000001.10:g.236918469G>A , CM000663.1:g.236918469G>A	GRCh37
NC_000001.9:g.234985092G>A	NCBI36
NG_009081.1:g.73700G>A
NG_009081.2:g.96029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2125G>A	ENSP00000443495.1:p.Asp709Asn
ENST00000461367.2:n.421G>A
ENST00000492634.7:n.2055G>A
ENST00000682015.1:c.2032G>A	ENSP00000506961.1:p.Asp678Asn
ENST00000682692.1:n.3220G>A
ENST00000682966.1:n.7766G>A
ENST00000683111.1:c.*1411G>A	ENSP00000507913.1:n.*1411G>A
ENST00000683322.1:n.3477G>A
ENST00000683805.1:n.916G>A
ENST00000684050.1:n.4763G>A
ENST00000684122.1:n.272G>A
ENST00000684286.1:n.3680G>A
ENST00000684502.1:n.3422G>A
ENST00000684763.1:n.740G>A
ENST00000366578.6:c.2125G>A MANE Select	ENSP00000355537.4:p.Asp709Asn
ENST00000492634.6:n.2055G>A
ENST00000542672.6:c.2125G>A	ENSP00000443495.1:p.Asp709Asn
ENST00000651091.1:c.1815G>A	ENSP00000498677.1:n.1815G>A
ENST00000651275.1:c.2017G>A	ENSP00000498926.1:p.Asp673Asn
ENST00000651781.1:c.1205G>A
ENST00000651786.1:c.*1497G>A	ENSP00000498364.1:n.*1497G>A
ENST00000652096.1:c.*1530G>A	ENSP00000498896.1:n.*1530G>A
ENST00000366578.5:c.2125G>A	ENSP00000355537.4:p.Asp709Asn
ENST00000461367.1:n.334G>A
ENST00000542672.5:c.2125G>A	ENSP00000443495.1:p.Asp709Asn
ENST00000546208.5:c.1501G>A	ENSP00000438384.2:p.Asp501Asn
NM_001103.3:c.2125G>A	NP_001094.1:p.Asp709Asn
NM_001278343.1:c.2125G>A	NP_001265272.1:p.Asp709Asn
NM_001278344.1:c.1501G>A	NP_001265273.1:p.Asp501Asn
NM_001278343.2:c.2125G>A	NP_001265272.1:p.Asp709Asn
NM_001103.4:c.2125G>A MANE Select	NP_001094.1:p.Asp709Asn
NM_001278344.2:c.1501G>A	NP_001265273.1:p.Asp501Asn