Canonical Allele Identifier: CA2521992995

Gene: ACTN2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236762456_236762457insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA , CM000663.2:g.236762456_236762457insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	GRCh38
NC_000001.10:g.236925756_236925757insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA , CM000663.1:g.236925756_236925757insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	GRCh37
NC_000001.9:g.234992379_234992380insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	NCBI36
NG_009081.1:g.80987_80988insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
NG_009081.2:g.103316_103317insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000443495.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000461367.2:n.823-5_823-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000492634.7:n.2457-5_2457-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000682015.1:c.2434-5_2434-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000506961.1:n.2434-5_2434-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000682490.1:n.445-5_445-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000682692.1:n.3622-5_3622-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000682966.1:n.8168-5_8168-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000683111.1:c.*1813-5_*1813-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000507913.1:n.*1813-5_*1813-4insTAAAGAATAGGGAGTCTATTGGC...
ENST00000683322.1:n.3879-5_3879-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000683805.1:n.1318-5_1318-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000684050.1:n.5165-5_5165-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000684122.1:n.1956_1957insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000684286.1:n.4082-5_4082-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000684502.1:n.3824-5_3824-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000684763.1:n.1142-5_1142-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000366578.6:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA MANE Select	ENSP00000355537.4:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000492634.6:n.2457-5_2457-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000542672.6:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000443495.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000651091.1:c.2217-5_2217-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000498677.1:n.2217-5_2217-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000651275.1:c.2419-5_2419-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000498926.1:n.2419-5_2419-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000651781.1:c.1607-5_1607-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000651786.1:c.*1899-5_*1899-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000498364.1:n.*1899-5_*1899-4insTAAAGAATAGGGAGTCTATTGGC...
ENST00000652096.1:c.*1932-5_*1932-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000498896.1:n.*1932-5_*1932-4insTAAAGAATAGGGAGTCTATTGGC...
ENST00000366578.5:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000355537.4:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000461367.1:n.736-5_736-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA
ENST00000542672.5:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000443495.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCAT...
ENST00000546208.5:c.1903-5_1903-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	ENSP00000438384.2:n.1903-5_1903-4insTAAAGAATAGGGAGTCTATTGGCAT...
NM_001103.3:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	NP_001094.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGT...
NM_001278343.1:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	NP_001265272.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGT...
NM_001278344.1:c.1903-5_1903-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	NP_001265273.1:n.1903-5_1903-4insTAAAGAATAGGGAGTCTATTGGCATAGT...
NM_001278343.2:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	NP_001265272.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGT...
NM_001103.4:c.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA MANE Select	NP_001094.1:n.2527-5_2527-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGT...
NM_001278344.2:c.1903-5_1903-4insTAAAGAATAGGGAGTCTATTGGCATAGTAGTA	NP_001265273.1:n.1903-5_1903-4insTAAAGAATAGGGAGTCTATTGGCATAGT...