Canonical Allele Identifier: CA133135

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747683G>A , CM000663.2:g.236747683G>A	GRCh38
NC_000001.10:g.236910983G>A , CM000663.1:g.236910983G>A	GRCh37
NC_000001.9:g.234977606G>A	NCBI36
NG_009081.1:g.66214G>A
NG_009081.2:g.88543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1423G>A	ENSP00000443495.1:p.Asp475Asn
ENST00000492634.7:n.1353G>A
ENST00000682015.1:c.1330G>A	ENSP00000506961.1:p.Asp444Asn
ENST00000682692.1:n.1170G>A
ENST00000682966.1:n.7064G>A
ENST00000683111.1:c.*709G>A	ENSP00000507913.1:n.*709G>A
ENST00000683322.1:n.2775G>A
ENST00000684050.1:n.4061G>A
ENST00000684286.1:n.2978G>A
ENST00000684502.1:n.1372G>A
ENST00000366578.6:c.1423G>A MANE Select	ENSP00000355537.4:p.Asp475Asn
ENST00000492634.6:n.1353G>A
ENST00000542672.6:c.1423G>A	ENSP00000443495.1:p.Asp475Asn
ENST00000651091.1:c.1113G>A	ENSP00000498677.1:n.1113G>A
ENST00000651275.1:c.1315G>A	ENSP00000498926.1:p.Asp439Asn
ENST00000651781.1:c.503G>A
ENST00000651786.1:c.*795G>A	ENSP00000498364.1:n.*795G>A
ENST00000652096.1:c.*828G>A	ENSP00000498896.1:n.*828G>A
ENST00000366578.5:c.1423G>A	ENSP00000355537.4:p.Asp475Asn
ENST00000542672.5:c.1423G>A	ENSP00000443495.1:p.Asp475Asn
ENST00000546208.5:c.799G>A	ENSP00000438384.2:p.Asp267Asn
NM_001103.3:c.1423G>A	NP_001094.1:p.Asp475Asn
NM_001278343.1:c.1423G>A	NP_001265272.1:p.Asp475Asn
NM_001278344.1:c.799G>A	NP_001265273.1:p.Asp267Asn
NM_001278343.2:c.1423G>A	NP_001265272.1:p.Asp475Asn
NM_001103.4:c.1423G>A MANE Select	NP_001094.1:p.Asp475Asn
NM_001278344.2:c.799G>A	NP_001265273.1:p.Asp267Asn