Canonical Allele Identifier: CA2573132809

Gene: ACTN2

Linked Data

• ClinVar Variation Id: 1512427
• ClinVar RCV Id: RCV002023020
• dbSNP Id: rs2102894975

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236719002_236719003delinsCC , CM000663.2:g.236719002_236719003delinsCC	GRCh38
NC_000001.10:g.236882302_236882303delinsCC , CM000663.1:g.236882302_236882303delinsCC	GRCh37
NC_000001.9:g.234948925_234948926delinsCC	NCBI36
NG_009081.2:g.59862_59863delinsCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000542672.7:c.350_351delinsCC	ENSP00000443495.1:p.Ile117Thr
ENST00000492634.7:n.445_446delinsCC
ENST00000494762.2:n.99_100delinsCC
ENST00000682015.1:c.350_351delinsCC	ENSP00000506961.1:p.Ile117Thr
ENST00000682692.1:n.350_351delinsCC
ENST00000682966.1:n.349_350delinsCC
ENST00000683075.1:n.289_290delinsCC
ENST00000683111.1:c.293_294delinsCC	ENSP00000507913.1:p.Ile98Thr
ENST00000684050.1:n.385_386delinsCC
ENST00000684286.1:n.418_419delinsCC
ENST00000684502.1:n.385_386delinsCC
ENST00000366578.6:c.350_351delinsCC MANE Select	ENSP00000355537.4:p.Ile117Thr
ENST00000492634.6:n.445_446delinsCC
ENST00000542672.6:c.350_351delinsCC	ENSP00000443495.1:p.Ile117Thr
ENST00000651091.1:c.293_294delinsCC	ENSP00000498677.1:p.Ile98Thr
ENST00000651187.1:c.134_135delinsCC	ENSP00000498348.1:p.Ile45Thr
ENST00000651275.1:c.335_336delinsCC	ENSP00000498926.1:p.Ile112Thr
ENST00000651786.1:c.350_351delinsCC	ENSP00000498364.1:p.Ile117Thr
ENST00000652096.1:c.350_351delinsCC	ENSP00000498896.1:p.Ile117Thr
ENST00000366578.5:c.350_351delinsCC	ENSP00000355537.4:p.Ile117Thr
ENST00000492634.5:n.497_498delinsCC
ENST00000542672.5:c.350_351delinsCC	ENSP00000443495.1:p.Ile117Thr
ENST00000546208.5:c.-472_-471delinsCC	ENSP00000438384.2:n.-472_-471delinsCC
NM_001278343.2:c.350_351delinsCC	NP_001265272.1:p.Ile117Thr
NM_001103.4:c.350_351delinsCC MANE Select	NP_001094.1:p.Ile117Thr
NM_001278344.2:c.-472_-471delinsCC	NP_001265273.1:n.-472_-471delinsCC