Canonical Allele Identifier: CA423811132

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1793323
• ClinVar RCV Id: RCV002452808
• dbSNP Id: rs193922636
• gnomAD v2: 1-236925811-C-G
• MyVariant Identifiers: chr1:g.236925811C>G (hg19) ; chr1:g.236762511C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762511C>G , CM000663.2:g.236762511C>G	GRCh38
NC_000001.10:g.236925811C>G , CM000663.1:g.236925811C>G	GRCh37
NC_000001.9:g.234992434C>G	NCBI36
NG_009081.1:g.81042C>G
NG_009081.2:g.103371C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2577C>G	ENSP00000443495.1:p.Ala859=
ENST00000461367.2:n.873C>G
ENST00000492634.7:n.2507C>G
ENST00000682015.1:c.2484C>G	ENSP00000506961.1:p.Ala828=
ENST00000682490.1:n.495C>G
ENST00000682692.1:n.3672C>G
ENST00000682966.1:n.8218C>G
ENST00000683111.1:c.*1863C>G	ENSP00000507913.1:n.*1863C>G
ENST00000683322.1:n.3929C>G
ENST00000683805.1:n.1368C>G
ENST00000684050.1:n.5215C>G
ENST00000684122.1:n.2011C>G
ENST00000684286.1:n.4132C>G
ENST00000684502.1:n.3874C>G
ENST00000684763.1:n.1192C>G
ENST00000366578.6:c.2577C>G MANE Select	ENSP00000355537.4:p.Ala859=
ENST00000492634.6:n.2507C>G
ENST00000542672.6:c.2577C>G	ENSP00000443495.1:p.Ala859=
ENST00000651091.1:c.2267C>G	ENSP00000498677.1:n.2267C>G
ENST00000651275.1:c.2469C>G	ENSP00000498926.1:p.Ala823=
ENST00000651781.1:c.1657C>G
ENST00000651786.1:c.*1949C>G	ENSP00000498364.1:n.*1949C>G
ENST00000652096.1:c.*1982C>G	ENSP00000498896.1:n.*1982C>G
ENST00000366578.5:c.2577C>G	ENSP00000355537.4:p.Ala859=
ENST00000461367.1:n.786C>G
ENST00000542672.5:c.2577C>G	ENSP00000443495.1:p.Ala859=
ENST00000546208.5:c.1953C>G	ENSP00000438384.2:p.Ala651=
NM_001103.3:c.2577C>G	NP_001094.1:p.Ala859=
NM_001278343.1:c.2577C>G	NP_001265272.1:p.Ala859=
NM_001278344.1:c.1953C>G	NP_001265273.1:p.Ala651=
NM_001278343.2:c.2577C>G	NP_001265272.1:p.Ala859=
NM_001103.4:c.2577C>G MANE Select	NP_001094.1:p.Ala859=
NM_001278344.2:c.1953C>G	NP_001265273.1:p.Ala651=