Canonical Allele Identifier: CA345392132

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925791G>T (hg19) ; chr1:g.236762491G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762491G>T , CM000663.2:g.236762491G>T	GRCh38
NC_000001.10:g.236925791G>T , CM000663.1:g.236925791G>T	GRCh37
NC_000001.9:g.234992414G>T	NCBI36
NG_009081.1:g.81022G>T
NG_009081.2:g.103351G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2557G>T	ENSP00000443495.1:p.Glu853Ter
ENST00000461367.2:n.853G>T
ENST00000492634.7:n.2487G>T
ENST00000682015.1:c.2464G>T	ENSP00000506961.1:p.Glu822Ter
ENST00000682490.1:n.475G>T
ENST00000682692.1:n.3652G>T
ENST00000682966.1:n.8198G>T
ENST00000683111.1:c.*1843G>T	ENSP00000507913.1:n.*1843G>T
ENST00000683322.1:n.3909G>T
ENST00000683805.1:n.1348G>T
ENST00000684050.1:n.5195G>T
ENST00000684122.1:n.1991G>T
ENST00000684286.1:n.4112G>T
ENST00000684502.1:n.3854G>T
ENST00000684763.1:n.1172G>T
ENST00000366578.6:c.2557G>T MANE Select	ENSP00000355537.4:p.Glu853Ter
ENST00000492634.6:n.2487G>T
ENST00000542672.6:c.2557G>T	ENSP00000443495.1:p.Glu853Ter
ENST00000651091.1:c.2247G>T	ENSP00000498677.1:n.2247G>T
ENST00000651275.1:c.2449G>T	ENSP00000498926.1:p.Glu817Ter
ENST00000651781.1:c.1637G>T
ENST00000651786.1:c.*1929G>T	ENSP00000498364.1:n.*1929G>T
ENST00000652096.1:c.*1962G>T	ENSP00000498896.1:n.*1962G>T
ENST00000366578.5:c.2557G>T	ENSP00000355537.4:p.Glu853Ter
ENST00000461367.1:n.766G>T
ENST00000542672.5:c.2557G>T	ENSP00000443495.1:p.Glu853Ter
ENST00000546208.5:c.1933G>T	ENSP00000438384.2:p.Glu645Ter
NM_001103.3:c.2557G>T	NP_001094.1:p.Glu853Ter
NM_001278343.1:c.2557G>T	NP_001265272.1:p.Glu853Ter
NM_001278344.1:c.1933G>T	NP_001265273.1:p.Glu645Ter
NM_001278343.2:c.2557G>T	NP_001265272.1:p.Glu853Ter
NM_001103.4:c.2557G>T MANE Select	NP_001094.1:p.Glu853Ter
NM_001278344.2:c.1933G>T	NP_001265273.1:p.Glu645Ter