Canonical Allele Identifier: CA345387414

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1783973
• ClinVar RCV Id: RCV002423845
• gnomAD v4: 1-236755034-T-A
• MyVariant Identifiers: chr1:g.236918334T>A (hg19) ; chr1:g.236755034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755034T>A , CM000663.2:g.236755034T>A	GRCh38
NC_000001.10:g.236918334T>A , CM000663.1:g.236918334T>A	GRCh37
NC_000001.9:g.234984957T>A	NCBI36
NG_009081.1:g.73565T>A
NG_009081.2:g.95894T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1990T>A	ENSP00000443495.1:p.Ser664Thr
ENST00000461367.2:n.286T>A
ENST00000492634.7:n.1920T>A
ENST00000682015.1:c.1897T>A	ENSP00000506961.1:p.Ser633Thr
ENST00000682692.1:n.3085T>A
ENST00000682966.1:n.7631T>A
ENST00000683111.1:c.*1276T>A	ENSP00000507913.1:n.*1276T>A
ENST00000683322.1:n.3342T>A
ENST00000683805.1:n.781T>A
ENST00000684050.1:n.4628T>A
ENST00000684122.1:n.137T>A
ENST00000684286.1:n.3545T>A
ENST00000684502.1:n.3287T>A
ENST00000684763.1:n.605T>A
ENST00000366578.6:c.1990T>A MANE Select	ENSP00000355537.4:p.Ser664Thr
ENST00000492634.6:n.1920T>A
ENST00000542672.6:c.1990T>A	ENSP00000443495.1:p.Ser664Thr
ENST00000651091.1:c.1680T>A	ENSP00000498677.1:n.1680T>A
ENST00000651275.1:c.1882T>A	ENSP00000498926.1:p.Ser628Thr
ENST00000651781.1:c.1070T>A
ENST00000651786.1:c.*1362T>A	ENSP00000498364.1:n.*1362T>A
ENST00000652096.1:c.*1395T>A	ENSP00000498896.1:n.*1395T>A
ENST00000366578.5:c.1990T>A	ENSP00000355537.4:p.Ser664Thr
ENST00000461367.1:n.199T>A
ENST00000542672.5:c.1990T>A	ENSP00000443495.1:p.Ser664Thr
ENST00000546208.5:c.1366T>A	ENSP00000438384.2:p.Ser456Thr
NM_001103.3:c.1990T>A	NP_001094.1:p.Ser664Thr
NM_001278343.1:c.1990T>A	NP_001265272.1:p.Ser664Thr
NM_001278344.1:c.1366T>A	NP_001265273.1:p.Ser456Thr
NM_001278343.2:c.1990T>A	NP_001265272.1:p.Ser664Thr
NM_001103.4:c.1990T>A MANE Select	NP_001094.1:p.Ser664Thr
NM_001278344.2:c.1366T>A	NP_001265273.1:p.Ser456Thr