Canonical Allele Identifier: CA2748253822

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754041_236754042insCACCAAACCAAACAC , CM000663.2:g.236754041_236754042insCACCAAACCAAACAC	GRCh38
NC_000001.10:g.236917341_236917342insCACCAAACCAAACAC , CM000663.1:g.236917341_236917342insCACCAAACCAAACAC	GRCh37
NC_000001.9:g.234983964_234983965insCACCAAACCAAACAC	NCBI36
NG_009081.1:g.72572_72573insCACCAAACCAAACAC
NG_009081.2:g.94901_94902insCACCAAACCAAACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1934_1935insCACCAAACCAAACAC	ENSP00000443495.1:p.Gln645delinsHisThrLysProAsnThr
ENST00000461367.2:n.230_231insCACCAAACCAAACAC
ENST00000492634.7:n.1864_1865insCACCAAACCAAACAC
ENST00000682015.1:c.1841_1842insCACCAAACCAAACAC	ENSP00000506961.1:p.Gln614delinsHisThrLysProAsnThr
ENST00000682692.1:n.3029_3030insCACCAAACCAAACAC
ENST00000682966.1:n.7575_7576insCACCAAACCAAACAC
ENST00000683111.1:c.*1220_*1221insCACCAAACCAAACAC	ENSP00000507913.1:n.*1220_*1221insCACCAAACCAAACAC
ENST00000683322.1:n.3286_3287insCACCAAACCAAACAC
ENST00000684050.1:n.4572_4573insCACCAAACCAAACAC
ENST00000684286.1:n.3489_3490insCACCAAACCAAACAC
ENST00000684502.1:n.3231_3232insCACCAAACCAAACAC
ENST00000684763.1:n.549_550insCACCAAACCAAACAC
ENST00000366578.6:c.1934_1935insCACCAAACCAAACAC MANE Select	ENSP00000355537.4:p.Gln645delinsHisThrLysProAsnThr
ENST00000492634.6:n.1864_1865insCACCAAACCAAACAC
ENST00000542672.6:c.1934_1935insCACCAAACCAAACAC	ENSP00000443495.1:p.Gln645delinsHisThrLysProAsnThr
ENST00000651091.1:c.1624_1625insCACCAAACCAAACAC	ENSP00000498677.1:n.1624_1625insCACCAAACCAAACAC
ENST00000651275.1:c.1826_1827insCACCAAACCAAACAC	ENSP00000498926.1:p.Gln609delinsHisThrLysProAsnThr
ENST00000651781.1:c.1014_1015insCACCAAACCAAACAC
ENST00000651786.1:c.*1306_*1307insCACCAAACCAAACAC	ENSP00000498364.1:n.*1306_*1307insCACCAAACCAAACAC
ENST00000652096.1:c.*1339_*1340insCACCAAACCAAACAC	ENSP00000498896.1:n.*1339_*1340insCACCAAACCAAACAC
ENST00000366578.5:c.1934_1935insCACCAAACCAAACAC	ENSP00000355537.4:p.Gln645delinsHisThrLysProAsnThr
ENST00000461367.1:n.143_144insCACCAAACCAAACAC
ENST00000542672.5:c.1934_1935insCACCAAACCAAACAC	ENSP00000443495.1:p.Gln645delinsHisThrLysProAsnThr
ENST00000546208.5:c.1310_1311insCACCAAACCAAACAC	ENSP00000438384.2:p.Gln437delinsHisThrLysProAsnThr
NM_001103.3:c.1934_1935insCACCAAACCAAACAC	NP_001094.1:p.Gln645delinsHisThrLysProAsnThr
NM_001278343.1:c.1934_1935insCACCAAACCAAACAC	NP_001265272.1:p.Gln645delinsHisThrLysProAsnThr
NM_001278344.1:c.1310_1311insCACCAAACCAAACAC	NP_001265273.1:p.Gln437delinsHisThrLysProAsnThr
NM_001278343.2:c.1934_1935insCACCAAACCAAACAC	NP_001265272.1:p.Gln645delinsHisThrLysProAsnThr
NM_001103.4:c.1934_1935insCACCAAACCAAACAC MANE Select	NP_001094.1:p.Gln645delinsHisThrLysProAsnThr
NM_001278344.2:c.1310_1311insCACCAAACCAAACAC	NP_001265273.1:p.Gln437delinsHisThrLysProAsnThr