Canonical Allele Identifier: CA2487053291

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762722_236762725delinsGAGA , CM000663.2:g.236762722_236762725delinsGAGA	GRCh38
NC_000001.10:g.236926022_236926025delinsGAGA , CM000663.1:g.236926022_236926025delinsGAGA	GRCh37
NC_000001.9:g.234992645_234992648delinsGAGA	NCBI36
NG_009081.1:g.81253_81256delinsGAGA
NG_009081.2:g.103582_103585delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*103_*106delinsGAGA	ENSP00000443495.1:n.*103_*106delinsGAGA
ENST00000461367.2:n.1084_1087delinsGAGA
ENST00000492634.7:n.2718_2721delinsGAGA
ENST00000682015.1:c.*103_*106delinsGAGA	ENSP00000506961.1:n.*103_*106delinsGAGA
ENST00000682490.1:n.706_709delinsGAGA
ENST00000682692.1:n.3883_3886delinsGAGA
ENST00000682966.1:n.8429_8432delinsGAGA
ENST00000683111.1:c.*2074_*2077delinsGAGA	ENSP00000507913.1:n.*2074_*2077delinsGAGA
ENST00000683322.1:n.4140_4143delinsGAGA
ENST00000683805.1:n.1579_1582delinsGAGA
ENST00000684050.1:n.5426_5429delinsGAGA
ENST00000684122.1:n.2222_2225delinsGAGA
ENST00000684286.1:n.4343_4346delinsGAGA
ENST00000684502.1:n.4085_4088delinsGAGA
ENST00000684763.1:n.1403_1406delinsGAGA
ENST00000366578.6:c.*103_*106delinsGAGA MANE Select	ENSP00000355537.4:n.*103_*106delinsGAGA
ENST00000492634.6:n.2718_2721delinsGAGA
ENST00000542672.6:c.*103_*106delinsGAGA	ENSP00000443495.1:n.*103_*106delinsGAGA
ENST00000651275.1:c.2680_2683delinsGAGA	ENSP00000498926.1:n.2680_2683delinsGAGA
ENST00000651781.1:c.1868_1871delinsGAGA
ENST00000652096.1:c.*2193_*2196delinsGAGA	ENSP00000498896.1:n.*2193_*2196delinsGAGA
ENST00000366578.5:c.*103_*106delinsGAGA	ENSP00000355537.4:n.*103_*106delinsGAGA
ENST00000542672.5:c.*103_*106delinsGAGA	ENSP00000443495.1:n.*103_*106delinsGAGA
ENST00000546208.5:c.*103_*106delinsGAGA	ENSP00000438384.2:n.*103_*106delinsGAGA
NM_001103.3:c.*103_*106delinsGAGA	NP_001094.1:n.*103_*106delinsGAGA
NM_001278343.1:c.*103_*106delinsGAGA	NP_001265272.1:n.*103_*106delinsGAGA
NM_001278344.1:c.*103_*106delinsGAGA	NP_001265273.1:n.*103_*106delinsGAGA
NM_001278343.2:c.*103_*106delinsGAGA	NP_001265272.1:n.*103_*106delinsGAGA
NM_001103.4:c.*103_*106delinsGAGA MANE Select	NP_001094.1:n.*103_*106delinsGAGA
NM_001278344.2:c.*103_*106delinsGAGA	NP_001265273.1:n.*103_*106delinsGAGA