Canonical Allele Identifier: CA2651182832

Gene: ACTN2

Linked Data

• gnomAD v4: 1-236762601-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762605del , CM000663.2:g.236762605del	GRCh38
NC_000001.10:g.236925905del , CM000663.1:g.236925905del	GRCh37
NC_000001.9:g.234992528del	NCBI36
NG_009081.1:g.81136del
NG_009081.2:g.103465del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2671del	ENSP00000443495.1:p.Glu891ArgfsTer10
ENST00000461367.2:n.967del
ENST00000492634.7:n.2601del
ENST00000682015.1:c.2578del	ENSP00000506961.1:p.Glu860ArgfsTer10
ENST00000682490.1:n.589del
ENST00000682692.1:n.3766del
ENST00000682966.1:n.8312del
ENST00000683111.1:c.*1957del	ENSP00000507913.1:n.*1957del
ENST00000683322.1:n.4023del
ENST00000683805.1:n.1462del
ENST00000684050.1:n.5309del
ENST00000684122.1:n.2105del
ENST00000684286.1:n.4226del
ENST00000684502.1:n.3968del
ENST00000684763.1:n.1286del
ENST00000366578.6:c.2671del MANE Select	ENSP00000355537.4:p.Glu891ArgfsTer10
ENST00000492634.6:n.2601del
ENST00000542672.6:c.2671del	ENSP00000443495.1:p.Glu891ArgfsTer10
ENST00000651275.1:c.2563del	ENSP00000498926.1:p.Glu855ArgfsTer10
ENST00000651781.1:c.1751del
ENST00000651786.1:c.*2043del	ENSP00000498364.1:n.*2043del
ENST00000652096.1:c.*2076del	ENSP00000498896.1:n.*2076del
ENST00000366578.5:c.2671del	ENSP00000355537.4:p.Glu891ArgfsTer10
ENST00000542672.5:c.2671del	ENSP00000443495.1:p.Glu891ArgfsTer10
ENST00000546208.5:c.2047del	ENSP00000438384.2:p.Glu683ArgfsTer10
NM_001103.3:c.2671del	NP_001094.1:p.Glu891ArgfsTer10
NM_001278343.1:c.2671del	NP_001265272.1:p.Glu891ArgfsTer10
NM_001278344.1:c.2047del	NP_001265273.1:p.Glu683ArgfsTer10
NM_001278343.2:c.2671del	NP_001265272.1:p.Glu891ArgfsTer10
NM_001103.4:c.2671del MANE Select	NP_001094.1:p.Glu891ArgfsTer10
NM_001278344.2:c.2047del	NP_001265273.1:p.Glu683ArgfsTer10