Canonical Allele Identifier: CA645369172

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 430146
• ClinVar RCV Id: RCV000493142
• dbSNP Id: rs1131691800
• MyVariant Identifiers: chr1:g.236925922C>T (hg19) ; chr1:g.236762622C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762622C>T , CM000663.2:g.236762622C>T	GRCh38
NC_000001.10:g.236925922C>T , CM000663.1:g.236925922C>T	GRCh37
NC_000001.9:g.234992545C>T	NCBI36
NG_009081.1:g.81153C>T
NG_009081.2:g.103482C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.*3C>T	ENSP00000443495.1:n.*3C>T
ENST00000461367.2:n.984C>T
ENST00000492634.7:n.2618C>T
ENST00000682015.1:c.*3C>T	ENSP00000506961.1:n.*3C>T
ENST00000682490.1:n.606C>T
ENST00000682692.1:n.3783C>T
ENST00000682966.1:n.8329C>T
ENST00000683111.1:c.*1974C>T	ENSP00000507913.1:n.*1974C>T
ENST00000683322.1:n.4040C>T
ENST00000683805.1:n.1479C>T
ENST00000684050.1:n.5326C>T
ENST00000684122.1:n.2122C>T
ENST00000684286.1:n.4243C>T
ENST00000684502.1:n.3985C>T
ENST00000684763.1:n.1303C>T
ENST00000366578.6:c.*3C>T MANE Select	ENSP00000355537.4:n.*3C>T
ENST00000492634.6:n.2618C>T
ENST00000542672.6:c.*3C>T	ENSP00000443495.1:n.*3C>T
ENST00000651275.1:c.2580C>T	ENSP00000498926.1:n.2580C>T
ENST00000651781.1:c.1768C>T
ENST00000651786.1:c.*2060C>T	ENSP00000498364.1:n.*2060C>T
ENST00000652096.1:c.*2093C>T	ENSP00000498896.1:n.*2093C>T
ENST00000366578.5:c.*3C>T	ENSP00000355537.4:n.*3C>T
ENST00000542672.5:c.*3C>T	ENSP00000443495.1:n.*3C>T
ENST00000546208.5:c.*3C>T	ENSP00000438384.2:n.*3C>T
NM_001103.3:c.*3C>T	NP_001094.1:n.*3C>T
NM_001278343.1:c.*3C>T	NP_001265272.1:n.*3C>T
NM_001278344.1:c.*3C>T	NP_001265273.1:n.*3C>T
NM_001278343.2:c.*3C>T	NP_001265272.1:n.*3C>T
NM_001103.4:c.*3C>T MANE Select	NP_001094.1:n.*3C>T
NM_001278344.2:c.*3C>T	NP_001265273.1:n.*3C>T