Canonical Allele Identifier: CA345383691

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236910969A>C (hg19) ; chr1:g.236747669A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236747669A>C , CM000663.2:g.236747669A>C	GRCh38
NC_000001.10:g.236910969A>C , CM000663.1:g.236910969A>C	GRCh37
NC_000001.9:g.234977592A>C	NCBI36
NG_009081.1:g.66200A>C
NG_009081.2:g.88529A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1409A>C	ENSP00000443495.1:p.Glu470Ala
ENST00000492634.7:n.1339A>C
ENST00000682015.1:c.1316A>C	ENSP00000506961.1:p.Glu439Ala
ENST00000682692.1:n.1156A>C
ENST00000682966.1:n.7050A>C
ENST00000683111.1:c.*695A>C	ENSP00000507913.1:n.*695A>C
ENST00000683322.1:n.2761A>C
ENST00000684050.1:n.4047A>C
ENST00000684286.1:n.2964A>C
ENST00000684502.1:n.1358A>C
ENST00000366578.6:c.1409A>C MANE Select	ENSP00000355537.4:p.Glu470Ala
ENST00000492634.6:n.1339A>C
ENST00000542672.6:c.1409A>C	ENSP00000443495.1:p.Glu470Ala
ENST00000651091.1:c.1099A>C	ENSP00000498677.1:n.1099A>C
ENST00000651275.1:c.1301A>C	ENSP00000498926.1:p.Glu434Ala
ENST00000651781.1:c.489A>C
ENST00000651786.1:c.*781A>C	ENSP00000498364.1:n.*781A>C
ENST00000652096.1:c.*814A>C	ENSP00000498896.1:n.*814A>C
ENST00000366578.5:c.1409A>C	ENSP00000355537.4:p.Glu470Ala
ENST00000542672.5:c.1409A>C	ENSP00000443495.1:p.Glu470Ala
ENST00000546208.5:c.785A>C	ENSP00000438384.2:p.Glu262Ala
NM_001103.3:c.1409A>C	NP_001094.1:p.Glu470Ala
NM_001278343.1:c.1409A>C	NP_001265272.1:p.Glu470Ala
NM_001278344.1:c.785A>C	NP_001265273.1:p.Glu262Ala
NM_001278343.2:c.1409A>C	NP_001265272.1:p.Glu470Ala
NM_001103.4:c.1409A>C MANE Select	NP_001094.1:p.Glu470Ala
NM_001278344.2:c.785A>C	NP_001265273.1:p.Glu262Ala