Canonical Allele Identifier: CA133188

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 43932
• ClinVar RCV Id: RCV000036904 ; RCV000601835 ; RCV001699107 ; RCV002490500 ; RCV002513453
• dbSNP Id: rs397516577
• ExAC: 1:236925821 A / C
• gnomAD v2: 1-236925821-A-C
• gnomAD v3: 1-236762521-A-C
• gnomAD v4: 1-236762521-A-C
• MyVariant Identifiers: chr1:g.236925821A>C (hg19) ; chr1:g.236762521A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762521A>C , CM000663.2:g.236762521A>C	GRCh38
NC_000001.10:g.236925821A>C , CM000663.1:g.236925821A>C	GRCh37
NC_000001.9:g.234992444A>C	NCBI36
NG_009081.1:g.81052A>C
NG_009081.2:g.103381A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2587A>C	ENSP00000443495.1:p.Ile863Leu
ENST00000461367.2:n.883A>C
ENST00000492634.7:n.2517A>C
ENST00000682015.1:c.2494A>C	ENSP00000506961.1:p.Ile832Leu
ENST00000682490.1:n.505A>C
ENST00000682692.1:n.3682A>C
ENST00000682966.1:n.8228A>C
ENST00000683111.1:c.*1873A>C	ENSP00000507913.1:n.*1873A>C
ENST00000683322.1:n.3939A>C
ENST00000683805.1:n.1378A>C
ENST00000684050.1:n.5225A>C
ENST00000684122.1:n.2021A>C
ENST00000684286.1:n.4142A>C
ENST00000684502.1:n.3884A>C
ENST00000684763.1:n.1202A>C
ENST00000366578.6:c.2587A>C MANE Select	ENSP00000355537.4:p.Ile863Leu
ENST00000492634.6:n.2517A>C
ENST00000542672.6:c.2587A>C	ENSP00000443495.1:p.Ile863Leu
ENST00000651091.1:c.2277A>C	ENSP00000498677.1:n.2277A>C
ENST00000651275.1:c.2479A>C	ENSP00000498926.1:p.Ile827Leu
ENST00000651781.1:c.1667A>C
ENST00000651786.1:c.*1959A>C	ENSP00000498364.1:n.*1959A>C
ENST00000652096.1:c.*1992A>C	ENSP00000498896.1:n.*1992A>C
ENST00000366578.5:c.2587A>C	ENSP00000355537.4:p.Ile863Leu
ENST00000461367.1:n.796A>C
ENST00000542672.5:c.2587A>C	ENSP00000443495.1:p.Ile863Leu
ENST00000546208.5:c.1963A>C	ENSP00000438384.2:p.Ile655Leu
NM_001103.3:c.2587A>C	NP_001094.1:p.Ile863Leu
NM_001278343.1:c.2587A>C	NP_001265272.1:p.Ile863Leu
NM_001278344.1:c.1963A>C	NP_001265273.1:p.Ile655Leu
NM_001278343.2:c.2587A>C	NP_001265272.1:p.Ile863Leu
NM_001103.4:c.2587A>C MANE Select	NP_001094.1:p.Ile863Leu
NM_001278344.2:c.1963A>C	NP_001265273.1:p.Ile655Leu