Canonical Allele Identifier: CA345388727

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920820C>A (hg19) ; chr1:g.236757520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757520C>A , CM000663.2:g.236757520C>A	GRCh38
NC_000001.10:g.236920820C>A , CM000663.1:g.236920820C>A	GRCh37
NC_000001.9:g.234987443C>A	NCBI36
NG_009081.1:g.76051C>A
NG_009081.2:g.98380C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2189C>A	ENSP00000443495.1:p.Thr730Asn
ENST00000461367.2:n.485C>A
ENST00000492634.7:n.2119C>A
ENST00000682015.1:c.2096C>A	ENSP00000506961.1:p.Thr699Asn
ENST00000682490.1:n.107C>A
ENST00000682692.1:n.3284C>A
ENST00000682966.1:n.7830C>A
ENST00000683111.1:c.*1475C>A	ENSP00000507913.1:n.*1475C>A
ENST00000683322.1:n.3541C>A
ENST00000683805.1:n.980C>A
ENST00000684050.1:n.4827C>A
ENST00000684122.1:n.336C>A
ENST00000684286.1:n.3744C>A
ENST00000684502.1:n.3486C>A
ENST00000684763.1:n.804C>A
ENST00000366578.6:c.2189C>A MANE Select	ENSP00000355537.4:p.Thr730Asn
ENST00000492634.6:n.2119C>A
ENST00000542672.6:c.2189C>A	ENSP00000443495.1:p.Thr730Asn
ENST00000651091.1:c.1879C>A	ENSP00000498677.1:n.1879C>A
ENST00000651275.1:c.2081C>A	ENSP00000498926.1:p.Thr694Asn
ENST00000651781.1:c.1269C>A
ENST00000651786.1:c.*1561C>A	ENSP00000498364.1:n.*1561C>A
ENST00000652096.1:c.*1594C>A	ENSP00000498896.1:n.*1594C>A
ENST00000366578.5:c.2189C>A	ENSP00000355537.4:p.Thr730Asn
ENST00000461367.1:n.398C>A
ENST00000542672.5:c.2189C>A	ENSP00000443495.1:p.Thr730Asn
ENST00000546208.5:c.1565C>A	ENSP00000438384.2:p.Thr522Asn
NM_001103.3:c.2189C>A	NP_001094.1:p.Thr730Asn
NM_001278343.1:c.2189C>A	NP_001265272.1:p.Thr730Asn
NM_001278344.1:c.1565C>A	NP_001265273.1:p.Thr522Asn
NM_001278343.2:c.2189C>A	NP_001265272.1:p.Thr730Asn
NM_001103.4:c.2189C>A MANE Select	NP_001094.1:p.Thr730Asn
NM_001278344.2:c.1565C>A	NP_001265273.1:p.Thr522Asn