Canonical Allele Identifier: CA345383694

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236747669-A-G
• MyVariant Identifiers: chr1:g.236910969A>G (hg19) ; chr1:g.236747669A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.1409A>G	ENSP00000443495.1:p.Glu470Gly
ENST00000492634.7:n.1339A>G
ENST00000682015.1:c.1316A>G	ENSP00000506961.1:p.Glu439Gly
ENST00000682692.1:n.1156A>G
ENST00000682966.1:n.7050A>G
ENST00000683111.1:c.*695A>G	ENSP00000507913.1:n.*695A>G
ENST00000683322.1:n.2761A>G
ENST00000684050.1:n.4047A>G
ENST00000684286.1:n.2964A>G
ENST00000684502.1:n.1358A>G
ENST00000366578.6:c.1409A>G MANE Select	ENSP00000355537.4:p.Glu470Gly
ENST00000492634.6:n.1339A>G
ENST00000542672.6:c.1409A>G	ENSP00000443495.1:p.Glu470Gly
ENST00000651091.1:c.1099A>G	ENSP00000498677.1:n.1099A>G
ENST00000651275.1:c.1301A>G	ENSP00000498926.1:p.Glu434Gly
ENST00000651781.1:c.489A>G
ENST00000651786.1:c.*781A>G	ENSP00000498364.1:n.*781A>G
ENST00000652096.1:c.*814A>G	ENSP00000498896.1:n.*814A>G
ENST00000366578.5:c.1409A>G	ENSP00000355537.4:p.Glu470Gly
ENST00000542672.5:c.1409A>G	ENSP00000443495.1:p.Glu470Gly
ENST00000546208.5:c.785A>G	ENSP00000438384.2:p.Glu262Gly
NM_001103.3:c.1409A>G	NP_001094.1:p.Glu470Gly
NM_001278343.1:c.1409A>G	NP_001265272.1:p.Glu470Gly
NM_001278344.1:c.785A>G	NP_001265273.1:p.Glu262Gly
NM_001278343.2:c.1409A>G	NP_001265272.1:p.Glu470Gly
NM_001103.4:c.1409A>G MANE Select	NP_001094.1:p.Glu470Gly
NM_001278344.2:c.785A>G	NP_001265273.1:p.Glu262Gly