Canonical Allele Identifier: CA2487053297

Gene: ACTN2

Linked Data

• dbSNP Id: rs1659748808

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762726_236762727insAGAGAGAGA , CM000663.2:g.236762726_236762727insAGAGAGAGA	GRCh38
NC_000001.10:g.236926026_236926027insAGAGAGAGA , CM000663.1:g.236926026_236926027insAGAGAGAGA	GRCh37
NC_000001.9:g.234992649_234992650insAGAGAGAGA	NCBI36
NG_009081.1:g.81257_81258insAGAGAGAGA
NG_009081.2:g.103586_103587insAGAGAGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.*107_*108insAGAGAGAGA	ENSP00000443495.1:n.*107_*108insAGAGAGAGA
ENST00000461367.2:n.1088_1089insAGAGAGAGA
ENST00000492634.7:n.2722_2723insAGAGAGAGA
ENST00000682015.1:c.*107_*108insAGAGAGAGA	ENSP00000506961.1:n.*107_*108insAGAGAGAGA
ENST00000682490.1:n.710_711insAGAGAGAGA
ENST00000682692.1:n.3887_3888insAGAGAGAGA
ENST00000682966.1:n.8433_8434insAGAGAGAGA
ENST00000683111.1:c.*2078_*2079insAGAGAGAGA	ENSP00000507913.1:n.*2078_*2079insAGAGAGAGA
ENST00000683322.1:n.4144_4145insAGAGAGAGA
ENST00000683805.1:n.1583_1584insAGAGAGAGA
ENST00000684050.1:n.5430_5431insAGAGAGAGA
ENST00000684122.1:n.2226_2227insAGAGAGAGA
ENST00000684286.1:n.4347_4348insAGAGAGAGA
ENST00000684502.1:n.4089_4090insAGAGAGAGA
ENST00000684763.1:n.1407_1408insAGAGAGAGA
ENST00000366578.6:c.*107_*108insAGAGAGAGA MANE Select	ENSP00000355537.4:n.*107_*108insAGAGAGAGA
ENST00000492634.6:n.2722_2723insAGAGAGAGA
ENST00000542672.6:c.*107_*108insAGAGAGAGA	ENSP00000443495.1:n.*107_*108insAGAGAGAGA
ENST00000651275.1:c.2684_2685insAGAGAGAGA	ENSP00000498926.1:n.2684_2685insAGAGAGAGA
ENST00000651781.1:c.1872_1873insAGAGAGAGA
ENST00000652096.1:c.*2197_*2198insAGAGAGAGA	ENSP00000498896.1:n.*2197_*2198insAGAGAGAGA
ENST00000366578.5:c.*107_*108insAGAGAGAGA	ENSP00000355537.4:n.*107_*108insAGAGAGAGA
ENST00000542672.5:c.*107_*108insAGAGAGAGA	ENSP00000443495.1:n.*107_*108insAGAGAGAGA
ENST00000546208.5:c.*107_*108insAGAGAGAGA	ENSP00000438384.2:n.*107_*108insAGAGAGAGA
NM_001103.3:c.*107_*108insAGAGAGAGA	NP_001094.1:n.*107_*108insAGAGAGAGA
NM_001278343.1:c.*107_*108insAGAGAGAGA	NP_001265272.1:n.*107_*108insAGAGAGAGA
NM_001278344.1:c.*107_*108insAGAGAGAGA	NP_001265273.1:n.*107_*108insAGAGAGAGA
NM_001278343.2:c.*107_*108insAGAGAGAGA	NP_001265272.1:n.*107_*108insAGAGAGAGA
NM_001103.4:c.*107_*108insAGAGAGAGA MANE Select	NP_001094.1:n.*107_*108insAGAGAGAGA
NM_001278344.2:c.*107_*108insAGAGAGAGA	NP_001265273.1:n.*107_*108insAGAGAGAGA