Canonical Allele Identifier: CA2840226224

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236754092_236754093del , CM000663.2:g.236754092_236754093del	GRCh38
NC_000001.10:g.236917392_236917393del , CM000663.1:g.236917392_236917393del	GRCh37
NC_000001.9:g.234984015_234984016del	NCBI36
NG_009081.1:g.72623_72624del
NG_009081.2:g.94952_94953del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.1974+11_1974+12del	ENSP00000443495.1:n.1974+11_1974+12del
ENST00000461367.2:n.270+11_270+12del
ENST00000492634.7:n.1904+11_1904+12del
ENST00000682015.1:c.1881+11_1881+12del	ENSP00000506961.1:n.1881+11_1881+12del
ENST00000682692.1:n.3069+11_3069+12del
ENST00000682966.1:n.7615+11_7615+12del
ENST00000683111.1:c.*1260+11_*1260+12del	ENSP00000507913.1:n.*1260+11_*1260+12del
ENST00000683322.1:n.3326+11_3326+12del
ENST00000684050.1:n.4612+11_4612+12del
ENST00000684286.1:n.3529+11_3529+12del
ENST00000684502.1:n.3271+11_3271+12del
ENST00000684763.1:n.589+11_589+12del
ENST00000366578.6:c.1974+11_1974+12del MANE Select	ENSP00000355537.4:n.1974+11_1974+12del
ENST00000492634.6:n.1904+11_1904+12del
ENST00000542672.6:c.1974+11_1974+12del	ENSP00000443495.1:n.1974+11_1974+12del
ENST00000651091.1:c.1664+11_1664+12del	ENSP00000498677.1:n.1664+11_1664+12del
ENST00000651275.1:c.1866+11_1866+12del	ENSP00000498926.1:n.1866+11_1866+12del
ENST00000651781.1:c.1054+11_1054+12del
ENST00000651786.1:c.*1346+11_*1346+12del	ENSP00000498364.1:n.*1346+11_*1346+12del
ENST00000652096.1:c.*1379+11_*1379+12del	ENSP00000498896.1:n.*1379+11_*1379+12del
ENST00000366578.5:c.1974+11_1974+12del	ENSP00000355537.4:n.1974+11_1974+12del
ENST00000461367.1:n.183+11_183+12del
ENST00000542672.5:c.1974+11_1974+12del	ENSP00000443495.1:n.1974+11_1974+12del
ENST00000546208.5:c.1350+11_1350+12del	ENSP00000438384.2:n.1350+11_1350+12del
NM_001103.3:c.1974+11_1974+12del	NP_001094.1:n.1974+11_1974+12del
NM_001278343.1:c.1974+11_1974+12del	NP_001265272.1:n.1974+11_1974+12del
NM_001278344.1:c.1350+11_1350+12del	NP_001265273.1:n.1350+11_1350+12del
NM_001278343.2:c.1974+11_1974+12del	NP_001265272.1:n.1974+11_1974+12del
NM_001103.4:c.1974+11_1974+12del MANE Select	NP_001094.1:n.1974+11_1974+12del
NM_001278344.2:c.1350+11_1350+12del	NP_001265273.1:n.1350+11_1350+12del