Canonical Allele Identifier: CA345392295

Gene: ACTN2

Linked Data

• MyVariant Identifiers: chr1:g.236925824A>G (hg19) ; chr1:g.236762524A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762524A>G , CM000663.2:g.236762524A>G	GRCh38
NC_000001.10:g.236925824A>G , CM000663.1:g.236925824A>G	GRCh37
NC_000001.9:g.234992447A>G	NCBI36
NG_009081.1:g.81055A>G
NG_009081.2:g.103384A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2590A>G	ENSP00000443495.1:p.Lys864Glu
ENST00000461367.2:n.886A>G
ENST00000492634.7:n.2520A>G
ENST00000682015.1:c.2497A>G	ENSP00000506961.1:p.Lys833Glu
ENST00000682490.1:n.508A>G
ENST00000682692.1:n.3685A>G
ENST00000682966.1:n.8231A>G
ENST00000683111.1:c.*1876A>G	ENSP00000507913.1:n.*1876A>G
ENST00000683322.1:n.3942A>G
ENST00000683805.1:n.1381A>G
ENST00000684050.1:n.5228A>G
ENST00000684122.1:n.2024A>G
ENST00000684286.1:n.4145A>G
ENST00000684502.1:n.3887A>G
ENST00000684763.1:n.1205A>G
ENST00000366578.6:c.2590A>G MANE Select	ENSP00000355537.4:p.Lys864Glu
ENST00000492634.6:n.2520A>G
ENST00000542672.6:c.2590A>G	ENSP00000443495.1:p.Lys864Glu
ENST00000651091.1:c.2280A>G	ENSP00000498677.1:n.2280A>G
ENST00000651275.1:c.2482A>G	ENSP00000498926.1:p.Lys828Glu
ENST00000651781.1:c.1670A>G
ENST00000651786.1:c.*1962A>G	ENSP00000498364.1:n.*1962A>G
ENST00000652096.1:c.*1995A>G	ENSP00000498896.1:n.*1995A>G
ENST00000366578.5:c.2590A>G	ENSP00000355537.4:p.Lys864Glu
ENST00000461367.1:n.799A>G
ENST00000542672.5:c.2590A>G	ENSP00000443495.1:p.Lys864Glu
ENST00000546208.5:c.1966A>G	ENSP00000438384.2:p.Lys656Glu
NM_001103.3:c.2590A>G	NP_001094.1:p.Lys864Glu
NM_001278343.1:c.2590A>G	NP_001265272.1:p.Lys864Glu
NM_001278344.1:c.1966A>G	NP_001265273.1:p.Lys656Glu
NM_001278343.2:c.2590A>G	NP_001265272.1:p.Lys864Glu
NM_001103.4:c.2590A>G MANE Select	NP_001094.1:p.Lys864Glu
NM_001278344.2:c.1966A>G	NP_001265273.1:p.Lys656Glu