Canonical Allele Identifier: CA423810149

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1784249
• ClinVar RCV Id: RCV002417186
• gnomAD v4: 1-236755045-C-T
• COSMIC: COSM6062070 ; COSM6062071
• MyVariant Identifiers: chr1:g.236918345C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755045C>T , CM000663.2:g.236755045C>T	GRCh38
NC_000001.10:g.236918345C>T , CM000663.1:g.236918345C>T	GRCh37
NC_000001.9:g.234984968C>T	NCBI36
NG_009081.1:g.73576C>T
NG_009081.2:g.95905C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2001C>T	ENSP00000443495.1:p.Ile667=
ENST00000461367.2:n.297C>T
ENST00000492634.7:n.1931C>T
ENST00000682015.1:c.1908C>T	ENSP00000506961.1:p.Ile636=
ENST00000682692.1:n.3096C>T
ENST00000682966.1:n.7642C>T
ENST00000683111.1:c.*1287C>T	ENSP00000507913.1:n.*1287C>T
ENST00000683322.1:n.3353C>T
ENST00000683805.1:n.792C>T
ENST00000684050.1:n.4639C>T
ENST00000684122.1:n.148C>T
ENST00000684286.1:n.3556C>T
ENST00000684502.1:n.3298C>T
ENST00000684763.1:n.616C>T
ENST00000366578.6:c.2001C>T MANE Select	ENSP00000355537.4:p.Ile667=
ENST00000492634.6:n.1931C>T
ENST00000542672.6:c.2001C>T	ENSP00000443495.1:p.Ile667=
ENST00000651091.1:c.1691C>T	ENSP00000498677.1:n.1691C>T
ENST00000651275.1:c.1893C>T	ENSP00000498926.1:p.Ile631=
ENST00000651781.1:c.1081C>T
ENST00000651786.1:c.*1373C>T	ENSP00000498364.1:n.*1373C>T
ENST00000652096.1:c.*1406C>T	ENSP00000498896.1:n.*1406C>T
ENST00000366578.5:c.2001C>T	ENSP00000355537.4:p.Ile667=
ENST00000461367.1:n.210C>T
ENST00000542672.5:c.2001C>T	ENSP00000443495.1:p.Ile667=
ENST00000546208.5:c.1377C>T	ENSP00000438384.2:p.Ile459=
NM_001103.3:c.2001C>T	NP_001094.1:p.Ile667=
NM_001278343.1:c.2001C>T	NP_001265272.1:p.Ile667=
NM_001278344.1:c.1377C>T	NP_001265273.1:p.Ile459=
NM_001278343.2:c.2001C>T	NP_001265272.1:p.Ile667=
NM_001103.4:c.2001C>T MANE Select	NP_001094.1:p.Ile667=
NM_001278344.2:c.1377C>T	NP_001265273.1:p.Ile459=