Canonical Allele Identifier: CA2580062388
Gene: ACTN2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785215

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236755104_236755105delinsCA , CM000663.2:g.236755104_236755105delinsCA GRCh38
NC_000001.10:g.236918404_236918405delinsCA , CM000663.1:g.236918404_236918405delinsCA GRCh37
NC_000001.9:g.234985027_234985028delinsCA NCBI36
NG_009081.1:g.73635_73636delinsCA
NG_009081.2:g.95964_95965delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000542672.7:c.2060_2061delinsCA ENSP00000443495.1:p.Asn687Thr
ENST00000461367.2:n.356_357delinsCA
ENST00000492634.7:n.1990_1991delinsCA
ENST00000682015.1:c.1967_1968delinsCA ENSP00000506961.1:p.Asn656Thr
ENST00000682692.1:n.3155_3156delinsCA
ENST00000682966.1:n.7701_7702delinsCA
ENST00000683111.1:c.*1346_*1347delinsCA ENSP00000507913.1:n.*1346_*1347delinsCA
ENST00000683322.1:n.3412_3413delinsCA
ENST00000683805.1:n.851_852delinsCA
ENST00000684050.1:n.4698_4699delinsCA
ENST00000684122.1:n.207_208delinsCA
ENST00000684286.1:n.3615_3616delinsCA
ENST00000684502.1:n.3357_3358delinsCA
ENST00000684763.1:n.675_676delinsCA
ENST00000366578.6:c.2060_2061delinsCA MANE Select ENSP00000355537.4:p.Asn687Thr
ENST00000492634.6:n.1990_1991delinsCA
ENST00000542672.6:c.2060_2061delinsCA ENSP00000443495.1:p.Asn687Thr
ENST00000651091.1:c.1750_1751delinsCA ENSP00000498677.1:n.1750_1751delinsCA
ENST00000651275.1:c.1952_1953delinsCA ENSP00000498926.1:p.Asn651Thr
ENST00000651781.1:c.1140_1141delinsCA
ENST00000651786.1:c.*1432_*1433delinsCA ENSP00000498364.1:n.*1432_*1433delinsCA
ENST00000652096.1:c.*1465_*1466delinsCA ENSP00000498896.1:n.*1465_*1466delinsCA
ENST00000366578.5:c.2060_2061delinsCA ENSP00000355537.4:p.Asn687Thr
ENST00000461367.1:n.269_270delinsCA
ENST00000542672.5:c.2060_2061delinsCA ENSP00000443495.1:p.Asn687Thr
ENST00000546208.5:c.1436_1437delinsCA ENSP00000438384.2:p.Asn479Thr
NM_001103.3:c.2060_2061delinsCA NP_001094.1:p.Asn687Thr
NM_001278343.1:c.2060_2061delinsCA NP_001265272.1:p.Asn687Thr
NM_001278344.1:c.1436_1437delinsCA NP_001265273.1:p.Asn479Thr
NM_001278343.2:c.2060_2061delinsCA NP_001265272.1:p.Asn687Thr
NM_001103.4:c.2060_2061delinsCA MANE Select NP_001094.1:p.Asn687Thr
NM_001278344.2:c.1436_1437delinsCA NP_001265273.1:p.Asn479Thr