Canonical Allele Identifier: CA345392215

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1326968
• ClinVar RCV Id: RCV001788846
• dbSNP Id: rs2102953709
• gnomAD v4: 1-236762509-G-A
• MyVariant Identifiers: chr1:g.236925809G>A (hg19) ; chr1:g.236762509G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762509G>A , CM000663.2:g.236762509G>A	GRCh38
NC_000001.10:g.236925809G>A , CM000663.1:g.236925809G>A	GRCh37
NC_000001.9:g.234992432G>A	NCBI36
NG_009081.1:g.81040G>A
NG_009081.2:g.103369G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2575G>A	ENSP00000443495.1:p.Ala859Thr
ENST00000461367.2:n.871G>A
ENST00000492634.7:n.2505G>A
ENST00000682015.1:c.2482G>A	ENSP00000506961.1:p.Ala828Thr
ENST00000682490.1:n.493G>A
ENST00000682692.1:n.3670G>A
ENST00000682966.1:n.8216G>A
ENST00000683111.1:c.*1861G>A	ENSP00000507913.1:n.*1861G>A
ENST00000683322.1:n.3927G>A
ENST00000683805.1:n.1366G>A
ENST00000684050.1:n.5213G>A
ENST00000684122.1:n.2009G>A
ENST00000684286.1:n.4130G>A
ENST00000684502.1:n.3872G>A
ENST00000684763.1:n.1190G>A
ENST00000366578.6:c.2575G>A MANE Select	ENSP00000355537.4:p.Ala859Thr
ENST00000492634.6:n.2505G>A
ENST00000542672.6:c.2575G>A	ENSP00000443495.1:p.Ala859Thr
ENST00000651091.1:c.2265G>A	ENSP00000498677.1:n.2265G>A
ENST00000651275.1:c.2467G>A	ENSP00000498926.1:p.Ala823Thr
ENST00000651781.1:c.1655G>A
ENST00000651786.1:c.*1947G>A	ENSP00000498364.1:n.*1947G>A
ENST00000652096.1:c.*1980G>A	ENSP00000498896.1:n.*1980G>A
ENST00000366578.5:c.2575G>A	ENSP00000355537.4:p.Ala859Thr
ENST00000461367.1:n.784G>A
ENST00000542672.5:c.2575G>A	ENSP00000443495.1:p.Ala859Thr
ENST00000546208.5:c.1951G>A	ENSP00000438384.2:p.Ala651Thr
NM_001103.3:c.2575G>A	NP_001094.1:p.Ala859Thr
NM_001278343.1:c.2575G>A	NP_001265272.1:p.Ala859Thr
NM_001278344.1:c.1951G>A	NP_001265273.1:p.Ala651Thr
NM_001278343.2:c.2575G>A	NP_001265272.1:p.Ala859Thr
NM_001103.4:c.2575G>A MANE Select	NP_001094.1:p.Ala859Thr
NM_001278344.2:c.1951G>A	NP_001265273.1:p.Ala651Thr