Canonical Allele Identifier: CA1473500

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 296510
• ClinVar RCV Id: RCV000433107 ; RCV000620337 ; RCV000557100 ; RCV000608990 ; RCV001085563
• dbSNP Id: rs147245615
• ExAC: 1:236925835 C / T
• gnomAD v2: 1-236925835-C-T
• gnomAD v3: 1-236762535-C-T
• gnomAD v4: 1-236762535-C-T
• MyVariant Identifiers: chr1:g.236925835C>T (hg19) ; chr1:g.236762535C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762535C>T , CM000663.2:g.236762535C>T	GRCh38
NC_000001.10:g.236925835C>T , CM000663.1:g.236925835C>T	GRCh37
NC_000001.9:g.234992458C>T	NCBI36
NG_009081.1:g.81066C>T
NG_009081.2:g.103395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2601C>T	ENSP00000443495.1:p.Pro867=
ENST00000461367.2:n.897C>T
ENST00000492634.7:n.2531C>T
ENST00000682015.1:c.2508C>T	ENSP00000506961.1:p.Pro836=
ENST00000682490.1:n.519C>T
ENST00000682692.1:n.3696C>T
ENST00000682966.1:n.8242C>T
ENST00000683111.1:c.*1887C>T	ENSP00000507913.1:n.*1887C>T
ENST00000683322.1:n.3953C>T
ENST00000683805.1:n.1392C>T
ENST00000684050.1:n.5239C>T
ENST00000684122.1:n.2035C>T
ENST00000684286.1:n.4156C>T
ENST00000684502.1:n.3898C>T
ENST00000684763.1:n.1216C>T
ENST00000366578.6:c.2601C>T MANE Select	ENSP00000355537.4:p.Pro867=
ENST00000492634.6:n.2531C>T
ENST00000542672.6:c.2601C>T	ENSP00000443495.1:p.Pro867=
ENST00000651091.1:c.2291C>T	ENSP00000498677.1:n.2291C>T
ENST00000651275.1:c.2493C>T	ENSP00000498926.1:p.Pro831=
ENST00000651781.1:c.1681C>T
ENST00000651786.1:c.*1973C>T	ENSP00000498364.1:n.*1973C>T
ENST00000652096.1:c.*2006C>T	ENSP00000498896.1:n.*2006C>T
ENST00000366578.5:c.2601C>T	ENSP00000355537.4:p.Pro867=
ENST00000461367.1:n.810C>T
ENST00000542672.5:c.2601C>T	ENSP00000443495.1:p.Pro867=
ENST00000546208.5:c.1977C>T	ENSP00000438384.2:p.Pro659=
NM_001103.3:c.2601C>T	NP_001094.1:p.Pro867=
NM_001278343.1:c.2601C>T	NP_001265272.1:p.Pro867=
NM_001278344.1:c.1977C>T	NP_001265273.1:p.Pro659=
NM_001278343.2:c.2601C>T	NP_001265272.1:p.Pro867=
NM_001103.4:c.2601C>T MANE Select	NP_001094.1:p.Pro867=
NM_001278344.2:c.1977C>T	NP_001265273.1:p.Pro659=