Canonical Allele Identifier: CA345387012

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236917350C>T (hg19) ; chr1:g.236754050C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754050C>T , CM000663.2:g.236754050C>T	GRCh38
NC_000001.10:g.236917350C>T , CM000663.1:g.236917350C>T	GRCh37
NC_000001.9:g.234983973C>T	NCBI36
NG_009081.1:g.72581C>T
NG_009081.2:g.94910C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1943C>T	ENSP00000443495.1:p.Ala648Val
ENST00000461367.2:n.239C>T
ENST00000492634.7:n.1873C>T
ENST00000682015.1:c.1850C>T	ENSP00000506961.1:p.Ala617Val
ENST00000682692.1:n.3038C>T
ENST00000682966.1:n.7584C>T
ENST00000683111.1:c.*1229C>T	ENSP00000507913.1:n.*1229C>T
ENST00000683322.1:n.3295C>T
ENST00000684050.1:n.4581C>T
ENST00000684286.1:n.3498C>T
ENST00000684502.1:n.3240C>T
ENST00000684763.1:n.558C>T
ENST00000366578.6:c.1943C>T MANE Select	ENSP00000355537.4:p.Ala648Val
ENST00000492634.6:n.1873C>T
ENST00000542672.6:c.1943C>T	ENSP00000443495.1:p.Ala648Val
ENST00000651091.1:c.1633C>T	ENSP00000498677.1:n.1633C>T
ENST00000651275.1:c.1835C>T	ENSP00000498926.1:p.Ala612Val
ENST00000651781.1:c.1023C>T
ENST00000651786.1:c.*1315C>T	ENSP00000498364.1:n.*1315C>T
ENST00000652096.1:c.*1348C>T	ENSP00000498896.1:n.*1348C>T
ENST00000366578.5:c.1943C>T	ENSP00000355537.4:p.Ala648Val
ENST00000461367.1:n.152C>T
ENST00000542672.5:c.1943C>T	ENSP00000443495.1:p.Ala648Val
ENST00000546208.5:c.1319C>T	ENSP00000438384.2:p.Ala440Val
NM_001103.3:c.1943C>T	NP_001094.1:p.Ala648Val
NM_001278343.1:c.1943C>T	NP_001265272.1:p.Ala648Val
NM_001278344.1:c.1319C>T	NP_001265273.1:p.Ala440Val
NM_001278343.2:c.1943C>T	NP_001265272.1:p.Ala648Val
NM_001103.4:c.1943C>T MANE Select	NP_001094.1:p.Ala648Val
NM_001278344.2:c.1319C>T	NP_001265273.1:p.Ala440Val