Canonical Allele Identifier: CA1473291

Gene: ACTN2

Linked Data

• dbSNP Id: rs763974276
• ExAC: 1:236917372 C / T
• gnomAD v2: 1-236917372-C-T
• gnomAD v4: 1-236754072-C-T
• MyVariant Identifiers: chr1:g.236917372C>T (hg19) ; chr1:g.236754072C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754072C>T , CM000663.2:g.236754072C>T	GRCh38
NC_000001.10:g.236917372C>T , CM000663.1:g.236917372C>T	GRCh37
NC_000001.9:g.234983995C>T	NCBI36
NG_009081.1:g.72603C>T
NG_009081.2:g.94932C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1965C>T	ENSP00000443495.1:p.Asn655=
ENST00000461367.2:n.261C>T
ENST00000492634.7:n.1895C>T
ENST00000682015.1:c.1872C>T	ENSP00000506961.1:p.Asn624=
ENST00000682692.1:n.3060C>T
ENST00000682966.1:n.7606C>T
ENST00000683111.1:c.*1251C>T	ENSP00000507913.1:n.*1251C>T
ENST00000683322.1:n.3317C>T
ENST00000684050.1:n.4603C>T
ENST00000684286.1:n.3520C>T
ENST00000684502.1:n.3262C>T
ENST00000684763.1:n.580C>T
ENST00000366578.6:c.1965C>T MANE Select	ENSP00000355537.4:p.Asn655=
ENST00000492634.6:n.1895C>T
ENST00000542672.6:c.1965C>T	ENSP00000443495.1:p.Asn655=
ENST00000651091.1:c.1655C>T	ENSP00000498677.1:n.1655C>T
ENST00000651275.1:c.1857C>T	ENSP00000498926.1:p.Asn619=
ENST00000651781.1:c.1045C>T
ENST00000651786.1:c.*1337C>T	ENSP00000498364.1:n.*1337C>T
ENST00000652096.1:c.*1370C>T	ENSP00000498896.1:n.*1370C>T
ENST00000366578.5:c.1965C>T	ENSP00000355537.4:p.Asn655=
ENST00000461367.1:n.174C>T
ENST00000542672.5:c.1965C>T	ENSP00000443495.1:p.Asn655=
ENST00000546208.5:c.1341C>T	ENSP00000438384.2:p.Asn447=
NM_001103.3:c.1965C>T	NP_001094.1:p.Asn655=
NM_001278343.1:c.1965C>T	NP_001265272.1:p.Asn655=
NM_001278344.1:c.1341C>T	NP_001265273.1:p.Asn447=
NM_001278343.2:c.1965C>T	NP_001265272.1:p.Asn655=
NM_001103.4:c.1965C>T MANE Select	NP_001094.1:p.Asn655=
NM_001278344.2:c.1341C>T	NP_001265273.1:p.Asn447=