Canonical Allele Identifier: CA345387789

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236755197-A-T
• MyVariant Identifiers: chr1:g.236918497A>T (hg19) ; chr1:g.236755197A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755197A>T , CM000663.2:g.236755197A>T	GRCh38
NC_000001.10:g.236918497A>T , CM000663.1:g.236918497A>T	GRCh37
NC_000001.9:g.234985120A>T	NCBI36
NG_009081.1:g.73728A>T
NG_009081.2:g.96057A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2153A>T	ENSP00000443495.1:p.Glu718Val
ENST00000461367.2:n.449A>T
ENST00000492634.7:n.2083A>T
ENST00000682015.1:c.2060A>T	ENSP00000506961.1:p.Glu687Val
ENST00000682692.1:n.3248A>T
ENST00000682966.1:n.7794A>T
ENST00000683111.1:c.*1439A>T	ENSP00000507913.1:n.*1439A>T
ENST00000683322.1:n.3505A>T
ENST00000683805.1:n.944A>T
ENST00000684050.1:n.4791A>T
ENST00000684122.1:n.300A>T
ENST00000684286.1:n.3708A>T
ENST00000684502.1:n.3450A>T
ENST00000684763.1:n.768A>T
ENST00000366578.6:c.2153A>T MANE Select	ENSP00000355537.4:p.Glu718Val
ENST00000492634.6:n.2083A>T
ENST00000542672.6:c.2153A>T	ENSP00000443495.1:p.Glu718Val
ENST00000651091.1:c.1843A>T	ENSP00000498677.1:n.1843A>T
ENST00000651275.1:c.2045A>T	ENSP00000498926.1:p.Glu682Val
ENST00000651781.1:c.1233A>T
ENST00000651786.1:c.*1525A>T	ENSP00000498364.1:n.*1525A>T
ENST00000652096.1:c.*1558A>T	ENSP00000498896.1:n.*1558A>T
ENST00000366578.5:c.2153A>T	ENSP00000355537.4:p.Glu718Val
ENST00000461367.1:n.362A>T
ENST00000542672.5:c.2153A>T	ENSP00000443495.1:p.Glu718Val
ENST00000546208.5:c.1529A>T	ENSP00000438384.2:p.Glu510Val
NM_001103.3:c.2153A>T	NP_001094.1:p.Glu718Val
NM_001278343.1:c.2153A>T	NP_001265272.1:p.Glu718Val
NM_001278344.1:c.1529A>T	NP_001265273.1:p.Glu510Val
NM_001278343.2:c.2153A>T	NP_001265272.1:p.Glu718Val
NM_001103.4:c.2153A>T MANE Select	NP_001094.1:p.Glu718Val
NM_001278344.2:c.1529A>T	NP_001265273.1:p.Glu510Val