Canonical Allele Identifier: CA345387790

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236918498G>C (hg19) ; chr1:g.236755198G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755198G>C , CM000663.2:g.236755198G>C	GRCh38
NC_000001.10:g.236918498G>C , CM000663.1:g.236918498G>C	GRCh37
NC_000001.9:g.234985121G>C	NCBI36
NG_009081.1:g.73729G>C
NG_009081.2:g.96058G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2154G>C	ENSP00000443495.1:p.Glu718Asp
ENST00000461367.2:n.450G>C
ENST00000492634.7:n.2084G>C
ENST00000682015.1:c.2061G>C	ENSP00000506961.1:p.Glu687Asp
ENST00000682692.1:n.3249G>C
ENST00000682966.1:n.7795G>C
ENST00000683111.1:c.*1440G>C	ENSP00000507913.1:n.*1440G>C
ENST00000683322.1:n.3506G>C
ENST00000683805.1:n.945G>C
ENST00000684050.1:n.4792G>C
ENST00000684122.1:n.301G>C
ENST00000684286.1:n.3709G>C
ENST00000684502.1:n.3451G>C
ENST00000684763.1:n.769G>C
ENST00000366578.6:c.2154G>C MANE Select	ENSP00000355537.4:p.Glu718Asp
ENST00000492634.6:n.2084G>C
ENST00000542672.6:c.2154G>C	ENSP00000443495.1:p.Glu718Asp
ENST00000651091.1:c.1844G>C	ENSP00000498677.1:n.1844G>C
ENST00000651275.1:c.2046G>C	ENSP00000498926.1:p.Glu682Asp
ENST00000651781.1:c.1234G>C
ENST00000651786.1:c.*1526G>C	ENSP00000498364.1:n.*1526G>C
ENST00000652096.1:c.*1559G>C	ENSP00000498896.1:n.*1559G>C
ENST00000366578.5:c.2154G>C	ENSP00000355537.4:p.Glu718Asp
ENST00000461367.1:n.363G>C
ENST00000542672.5:c.2154G>C	ENSP00000443495.1:p.Glu718Asp
ENST00000546208.5:c.1530G>C	ENSP00000438384.2:p.Glu510Asp
NM_001103.3:c.2154G>C	NP_001094.1:p.Glu718Asp
NM_001278343.1:c.2154G>C	NP_001265272.1:p.Glu718Asp
NM_001278344.1:c.1530G>C	NP_001265273.1:p.Glu510Asp
NM_001278343.2:c.2154G>C	NP_001265272.1:p.Glu718Asp
NM_001103.4:c.2154G>C MANE Select	NP_001094.1:p.Glu718Asp
NM_001278344.2:c.1530G>C	NP_001265273.1:p.Glu510Asp