Canonical Allele Identifier: CA345392709

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925908A>T (hg19) ; chr1:g.236762608A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762608A>T , CM000663.2:g.236762608A>T	GRCh38
NC_000001.10:g.236925908A>T , CM000663.1:g.236925908A>T	GRCh37
NC_000001.9:g.234992531A>T	NCBI36
NG_009081.1:g.81139A>T
NG_009081.2:g.103468A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2674A>T	ENSP00000443495.1:p.Ser892Cys
ENST00000461367.2:n.970A>T
ENST00000492634.7:n.2604A>T
ENST00000682015.1:c.2581A>T	ENSP00000506961.1:p.Ser861Cys
ENST00000682490.1:n.592A>T
ENST00000682692.1:n.3769A>T
ENST00000682966.1:n.8315A>T
ENST00000683111.1:c.*1960A>T	ENSP00000507913.1:n.*1960A>T
ENST00000683322.1:n.4026A>T
ENST00000683805.1:n.1465A>T
ENST00000684050.1:n.5312A>T
ENST00000684122.1:n.2108A>T
ENST00000684286.1:n.4229A>T
ENST00000684502.1:n.3971A>T
ENST00000684763.1:n.1289A>T
ENST00000366578.6:c.2674A>T MANE Select	ENSP00000355537.4:p.Ser892Cys
ENST00000492634.6:n.2604A>T
ENST00000542672.6:c.2674A>T	ENSP00000443495.1:p.Ser892Cys
ENST00000651275.1:c.2566A>T	ENSP00000498926.1:p.Ser856Cys
ENST00000651781.1:c.1754A>T
ENST00000651786.1:c.*2046A>T	ENSP00000498364.1:n.*2046A>T
ENST00000652096.1:c.*2079A>T	ENSP00000498896.1:n.*2079A>T
ENST00000366578.5:c.2674A>T	ENSP00000355537.4:p.Ser892Cys
ENST00000542672.5:c.2674A>T	ENSP00000443495.1:p.Ser892Cys
ENST00000546208.5:c.2050A>T	ENSP00000438384.2:p.Ser684Cys
NM_001103.3:c.2674A>T	NP_001094.1:p.Ser892Cys
NM_001278343.1:c.2674A>T	NP_001265272.1:p.Ser892Cys
NM_001278344.1:c.2050A>T	NP_001265273.1:p.Ser684Cys
NM_001278343.2:c.2674A>T	NP_001265272.1:p.Ser892Cys
NM_001103.4:c.2674A>T MANE Select	NP_001094.1:p.Ser892Cys
NM_001278344.2:c.2050A>T	NP_001265273.1:p.Ser684Cys