Canonical Allele Identifier: CA345388682

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236920806G>T (hg19) ; chr1:g.236757506G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236757506G>T , CM000663.2:g.236757506G>T	GRCh38
NC_000001.10:g.236920806G>T , CM000663.1:g.236920806G>T	GRCh37
NC_000001.9:g.234987429G>T	NCBI36
NG_009081.1:g.76037G>T
NG_009081.2:g.98366G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2175G>T	ENSP00000443495.1:p.Glu725Asp
ENST00000461367.2:n.471G>T
ENST00000492634.7:n.2105G>T
ENST00000682015.1:c.2082G>T	ENSP00000506961.1:p.Glu694Asp
ENST00000682490.1:n.93G>T
ENST00000682692.1:n.3270G>T
ENST00000682966.1:n.7816G>T
ENST00000683111.1:c.*1461G>T	ENSP00000507913.1:n.*1461G>T
ENST00000683322.1:n.3527G>T
ENST00000683805.1:n.966G>T
ENST00000684050.1:n.4813G>T
ENST00000684122.1:n.322G>T
ENST00000684286.1:n.3730G>T
ENST00000684502.1:n.3472G>T
ENST00000684763.1:n.790G>T
ENST00000366578.6:c.2175G>T MANE Select	ENSP00000355537.4:p.Glu725Asp
ENST00000492634.6:n.2105G>T
ENST00000542672.6:c.2175G>T	ENSP00000443495.1:p.Glu725Asp
ENST00000651091.1:c.1865G>T	ENSP00000498677.1:n.1865G>T
ENST00000651275.1:c.2067G>T	ENSP00000498926.1:p.Glu689Asp
ENST00000651781.1:c.1255G>T
ENST00000651786.1:c.*1547G>T	ENSP00000498364.1:n.*1547G>T
ENST00000652096.1:c.*1580G>T	ENSP00000498896.1:n.*1580G>T
ENST00000366578.5:c.2175G>T	ENSP00000355537.4:p.Glu725Asp
ENST00000461367.1:n.384G>T
ENST00000542672.5:c.2175G>T	ENSP00000443495.1:p.Glu725Asp
ENST00000546208.5:c.1551G>T	ENSP00000438384.2:p.Glu517Asp
NM_001103.3:c.2175G>T	NP_001094.1:p.Glu725Asp
NM_001278343.1:c.2175G>T	NP_001265272.1:p.Glu725Asp
NM_001278344.1:c.1551G>T	NP_001265273.1:p.Glu517Asp
NM_001278343.2:c.2175G>T	NP_001265272.1:p.Glu725Asp
NM_001103.4:c.2175G>T MANE Select	NP_001094.1:p.Glu725Asp
NM_001278344.2:c.1551G>T	NP_001265273.1:p.Glu517Asp