Canonical Allele Identifier: CA2487053277

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762692_236762693delinsCT , CM000663.2:g.236762692_236762693delinsCT	GRCh38
NC_000001.10:g.236925992_236925993delinsCT , CM000663.1:g.236925992_236925993delinsCT	GRCh37
NC_000001.9:g.234992615_234992616delinsCT	NCBI36
NG_009081.1:g.81223_81224delinsCT
NG_009081.2:g.103552_103553delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*73_*74delinsCT	ENSP00000443495.1:n.*73_*74delinsCT
ENST00000461367.2:n.1054_1055delinsCT
ENST00000492634.7:n.2688_2689delinsCT
ENST00000682015.1:c.*73_*74delinsCT	ENSP00000506961.1:n.*73_*74delinsCT
ENST00000682490.1:n.676_677delinsCT
ENST00000682692.1:n.3853_3854delinsCT
ENST00000682966.1:n.8399_8400delinsCT
ENST00000683111.1:c.*2044_*2045delinsCT	ENSP00000507913.1:n.*2044_*2045delinsCT
ENST00000683322.1:n.4110_4111delinsCT
ENST00000683805.1:n.1549_1550delinsCT
ENST00000684050.1:n.5396_5397delinsCT
ENST00000684122.1:n.2192_2193delinsCT
ENST00000684286.1:n.4313_4314delinsCT
ENST00000684502.1:n.4055_4056delinsCT
ENST00000684763.1:n.1373_1374delinsCT
ENST00000366578.6:c.*73_*74delinsCT MANE Select	ENSP00000355537.4:n.*73_*74delinsCT
ENST00000492634.6:n.2688_2689delinsCT
ENST00000542672.6:c.*73_*74delinsCT	ENSP00000443495.1:n.*73_*74delinsCT
ENST00000651275.1:c.2650_2651delinsCT	ENSP00000498926.1:n.2650_2651delinsCT
ENST00000651781.1:c.1838_1839delinsCT
ENST00000651786.1:c.*2130_*2131delinsCT	ENSP00000498364.1:n.*2130_*2131delinsCT
ENST00000652096.1:c.*2163_*2164delinsCT	ENSP00000498896.1:n.*2163_*2164delinsCT
ENST00000366578.5:c.*73_*74delinsCT	ENSP00000355537.4:n.*73_*74delinsCT
ENST00000542672.5:c.*73_*74delinsCT	ENSP00000443495.1:n.*73_*74delinsCT
ENST00000546208.5:c.*73_*74delinsCT	ENSP00000438384.2:n.*73_*74delinsCT
NM_001103.3:c.*73_*74delinsCT	NP_001094.1:n.*73_*74delinsCT
NM_001278343.1:c.*73_*74delinsCT	NP_001265272.1:n.*73_*74delinsCT
NM_001278344.1:c.*73_*74delinsCT	NP_001265273.1:n.*73_*74delinsCT
NM_001278343.2:c.*73_*74delinsCT	NP_001265272.1:n.*73_*74delinsCT
NM_001103.4:c.*73_*74delinsCT MANE Select	NP_001094.1:n.*73_*74delinsCT
NM_001278344.2:c.*73_*74delinsCT	NP_001265273.1:n.*73_*74delinsCT