Canonical Allele Identifier: CA1473333

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1428050
• ClinVar RCV Id: RCV001964779
• dbSNP Id: rs749678360
• ExAC: 1:236918395 ACAT / A
• gnomAD v2: 1-236918395-ACAT-A
• gnomAD v4: 1-236755095-ACAT-A
• MyVariant Identifiers: chr1:g.236918396_236918398del (hg19) ; chr1:g.236755096_236755098del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236755101_236755103del , CM000663.2:g.236755101_236755103del	GRCh38
NC_000001.10:g.236918401_236918403del , CM000663.1:g.236918401_236918403del	GRCh37
NC_000001.9:g.234985024_234985026del	NCBI36
NG_009081.1:g.73632_73634del
NG_009081.2:g.95961_95963del

Transcript Alleles

HGVS	Amino-acid change
ENST00000542672.7:c.2057_2059del	ENSP00000443495.1:p.Ile686del
ENST00000461367.2:n.353_355del
ENST00000492634.7:n.1987_1989del
ENST00000682015.1:c.1964_1966del	ENSP00000506961.1:p.Ile655del
ENST00000682692.1:n.3152_3154del
ENST00000682966.1:n.7698_7700del
ENST00000683111.1:c.*1343_*1345del	ENSP00000507913.1:n.*1343_*1345del
ENST00000683322.1:n.3409_3411del
ENST00000683805.1:n.848_850del
ENST00000684050.1:n.4695_4697del
ENST00000684122.1:n.204_206del
ENST00000684286.1:n.3612_3614del
ENST00000684502.1:n.3354_3356del
ENST00000684763.1:n.672_674del
ENST00000366578.6:c.2057_2059del MANE Select	ENSP00000355537.4:p.Ile686del
ENST00000492634.6:n.1987_1989del
ENST00000542672.6:c.2057_2059del	ENSP00000443495.1:p.Ile686del
ENST00000651091.1:c.1747_1749del	ENSP00000498677.1:n.1747_1749del
ENST00000651275.1:c.1949_1951del	ENSP00000498926.1:p.Ile650del
ENST00000651781.1:c.1137_1139del
ENST00000651786.1:c.*1429_*1431del	ENSP00000498364.1:n.*1429_*1431del
ENST00000652096.1:c.*1462_*1464del	ENSP00000498896.1:n.*1462_*1464del
ENST00000366578.5:c.2057_2059del	ENSP00000355537.4:p.Ile686del
ENST00000461367.1:n.266_268del
ENST00000542672.5:c.2057_2059del	ENSP00000443495.1:p.Ile686del
ENST00000546208.5:c.1433_1435del	ENSP00000438384.2:p.Ile478del
NM_001103.3:c.2057_2059del	NP_001094.1:p.Ile686del
NM_001278343.1:c.2057_2059del	NP_001265272.1:p.Ile686del
NM_001278344.1:c.1433_1435del	NP_001265273.1:p.Ile478del
NM_001278343.2:c.2057_2059del	NP_001265272.1:p.Ile686del
NM_001103.4:c.2057_2059del MANE Select	NP_001094.1:p.Ile686del
NM_001278344.2:c.1433_1435del	NP_001265273.1:p.Ile478del