Canonical Allele Identifier: CA345387543

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918391C>A (hg19) ; chr1:g.236755091C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755091C>A , CM000663.2:g.236755091C>A	GRCh38
NC_000001.10:g.236918391C>A , CM000663.1:g.236918391C>A	GRCh37
NC_000001.9:g.234985014C>A	NCBI36
NG_009081.1:g.73622C>A
NG_009081.2:g.95951C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2047C>A	ENSP00000443495.1:p.His683Asn
ENST00000461367.2:n.343C>A
ENST00000492634.7:n.1977C>A
ENST00000682015.1:c.1954C>A	ENSP00000506961.1:p.His652Asn
ENST00000682692.1:n.3142C>A
ENST00000682966.1:n.7688C>A
ENST00000683111.1:c.*1333C>A	ENSP00000507913.1:n.*1333C>A
ENST00000683322.1:n.3399C>A
ENST00000683805.1:n.838C>A
ENST00000684050.1:n.4685C>A
ENST00000684122.1:n.194C>A
ENST00000684286.1:n.3602C>A
ENST00000684502.1:n.3344C>A
ENST00000684763.1:n.662C>A
ENST00000366578.6:c.2047C>A MANE Select	ENSP00000355537.4:p.His683Asn
ENST00000492634.6:n.1977C>A
ENST00000542672.6:c.2047C>A	ENSP00000443495.1:p.His683Asn
ENST00000651091.1:c.1737C>A	ENSP00000498677.1:n.1737C>A
ENST00000651275.1:c.1939C>A	ENSP00000498926.1:p.His647Asn
ENST00000651781.1:c.1127C>A
ENST00000651786.1:c.*1419C>A	ENSP00000498364.1:n.*1419C>A
ENST00000652096.1:c.*1452C>A	ENSP00000498896.1:n.*1452C>A
ENST00000366578.5:c.2047C>A	ENSP00000355537.4:p.His683Asn
ENST00000461367.1:n.256C>A
ENST00000542672.5:c.2047C>A	ENSP00000443495.1:p.His683Asn
ENST00000546208.5:c.1423C>A	ENSP00000438384.2:p.His475Asn
NM_001103.3:c.2047C>A	NP_001094.1:p.His683Asn
NM_001278343.1:c.2047C>A	NP_001265272.1:p.His683Asn
NM_001278344.1:c.1423C>A	NP_001265273.1:p.His475Asn
NM_001278343.2:c.2047C>A	NP_001265272.1:p.His683Asn
NM_001103.4:c.2047C>A MANE Select	NP_001094.1:p.His683Asn
NM_001278344.2:c.1423C>A	NP_001265273.1:p.His475Asn