Canonical Allele Identifier: CA133194

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 43935
• ClinVar RCV Id: RCV000036907 ; RCV000461026 ; RCV001311687 ; RCV002426559 ; RCV002504888
• dbSNP Id: rs397516578
• ExAC: 1:236925910 C / T
• gnomAD v2: 1-236925910-C-T
• gnomAD v3: 1-236762610-C-T
• gnomAD v4: 1-236762610-C-T
• COSMIC: COSM4029862
• MyVariant Identifiers: chr1:g.236925910C>T (hg19) ; chr1:g.236762610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762610C>T , CM000663.2:g.236762610C>T	GRCh38
NC_000001.10:g.236925910C>T , CM000663.1:g.236925910C>T	GRCh37
NC_000001.9:g.234992533C>T	NCBI36
NG_009081.1:g.81141C>T
NG_009081.2:g.103470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2676C>T	ENSP00000443495.1:p.Ser892=
ENST00000461367.2:n.972C>T
ENST00000492634.7:n.2606C>T
ENST00000682015.1:c.2583C>T	ENSP00000506961.1:p.Ser861=
ENST00000682490.1:n.594C>T
ENST00000682692.1:n.3771C>T
ENST00000682966.1:n.8317C>T
ENST00000683111.1:c.*1962C>T	ENSP00000507913.1:n.*1962C>T
ENST00000683322.1:n.4028C>T
ENST00000683805.1:n.1467C>T
ENST00000684050.1:n.5314C>T
ENST00000684122.1:n.2110C>T
ENST00000684286.1:n.4231C>T
ENST00000684502.1:n.3973C>T
ENST00000684763.1:n.1291C>T
ENST00000366578.6:c.2676C>T MANE Select	ENSP00000355537.4:p.Ser892=
ENST00000492634.6:n.2606C>T
ENST00000542672.6:c.2676C>T	ENSP00000443495.1:p.Ser892=
ENST00000651275.1:c.2568C>T	ENSP00000498926.1:p.Ser856=
ENST00000651781.1:c.1756C>T
ENST00000651786.1:c.*2048C>T	ENSP00000498364.1:n.*2048C>T
ENST00000652096.1:c.*2081C>T	ENSP00000498896.1:n.*2081C>T
ENST00000366578.5:c.2676C>T	ENSP00000355537.4:p.Ser892=
ENST00000542672.5:c.2676C>T	ENSP00000443495.1:p.Ser892=
ENST00000546208.5:c.2052C>T	ENSP00000438384.2:p.Ser684=
NM_001103.3:c.2676C>T	NP_001094.1:p.Ser892=
NM_001278343.1:c.2676C>T	NP_001265272.1:p.Ser892=
NM_001278344.1:c.2052C>T	NP_001265273.1:p.Ser684=
NM_001278343.2:c.2676C>T	NP_001265272.1:p.Ser892=
NM_001103.4:c.2676C>T MANE Select	NP_001094.1:p.Ser892=
NM_001278344.2:c.2052C>T	NP_001265273.1:p.Ser684=