Canonical Allele Identifier: CA658656993

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 450831
• ClinVar RCV Id: RCV000788648
• dbSNP Id: rs1553305275

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762500_236762548delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT , CM000663.2:g.236762500_236762548delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	GRCh38
NC_000001.10:g.236925800_236925848delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT , CM000663.1:g.236925800_236925848delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	GRCh37
NC_000001.9:g.234992423_234992471delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	NCBI36
NG_009081.1:g.81031_81079delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
NG_009081.2:g.103360_103408delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000443495.1:p.Pro856AspfsTer?
ENST00000461367.2:n.862_910delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000492634.7:n.2496_2544delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000682015.1:c.2473_2521delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000506961.1:p.Pro825AspfsTer?
ENST00000682490.1:n.484_532delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000682692.1:n.3661_3709delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000682966.1:n.8207_8255delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000683111.1:c.*1852_*1900delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000507913.1:n.*1852_*1900delinsGACGGATCAGGCCCAGTACTGCAT...
ENST00000683322.1:n.3918_3966delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000683805.1:n.1357_1405delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000684050.1:n.5204_5252delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000684122.1:n.2000_2048delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000684286.1:n.4121_4169delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000684502.1:n.3863_3911delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000684763.1:n.1181_1229delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000366578.6:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT MANE Select	ENSP00000355537.4:p.Pro856AspfsTer?
ENST00000492634.6:n.2496_2544delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000542672.6:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000443495.1:p.Pro856AspfsTer?
ENST00000651091.1:c.2256_2304delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000498677.1:n.2256_2304delinsGACGGATCAGGCCCAGTACTGCATCA...
ENST00000651275.1:c.2458_2506delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000498926.1:p.Pro820AspfsTer?
ENST00000651781.1:c.1646_1694delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000651786.1:c.*1938_*1986delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000498364.1:n.*1938_*1986delinsGACGGATCAGGCCCAGTACTGCAT...
ENST00000652096.1:c.*1971_*2019delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000498896.1:n.*1971_*2019delinsGACGGATCAGGCCCAGTACTGCAT...
ENST00000366578.5:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000355537.4:p.Pro856AspfsTer?
ENST00000461367.1:n.775_823delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT
ENST00000542672.5:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000443495.1:p.Pro856AspfsTer?
ENST00000546208.5:c.1942_1990delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	ENSP00000438384.2:p.Pro648AspfsTer?
NM_001103.3:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	NP_001094.1:p.Pro856AspfsTer?
NM_001278343.1:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	NP_001265272.1:p.Pro856AspfsTer?
NM_001278344.1:c.1942_1990delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	NP_001265273.1:p.Pro648AspfsTer?
NM_001278343.2:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	NP_001265272.1:p.Pro856AspfsTer?
NM_001103.4:c.2566_2614delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT MANE Select	NP_001094.1:p.Pro856AspfsTer?
NM_001278344.2:c.1942_1990delinsGACGGATCAGGCCCAGTACTGCATCAAGAGGATGCCCGCCTACT	NP_001265273.1:p.Pro648AspfsTer?