Canonical Allele Identifier: CA2610069674
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935395_88935396insCTAATGATGACA , CM000672.2:g.88935395_88935396insCTAATGATGACA GRCh38
NC_000010.10:g.90695152_90695153insCTAATGATGACA , CM000672.1:g.90695152_90695153insCTAATGATGACA GRCh37
NC_000010.9:g.90685132_90685133insCTAATGATGACA NCBI36
NG_011541.1:g.60997_60998insTCATCATTAGTG , LRG_781:g.60997_60998insTCATCATTAGTG

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.991-28_991-27insTCATCATTAGTG (ACTA2) ENSP00000396730.2:n.991-28_991-27insTCATCATTAGTG
ENST00000458159.6:c.991-28_991-27insTCATCATTAGTG (ACTA2) ENSP00000398239.2:n.991-28_991-27insTCATCATTAGTG
ENST00000480297.6:n.2587-28_2587-27insTCATCATTAGTG (ACTA2)
ENST00000224784.10:c.991-28_991-27insTCATCATTAGTG (ACTA2) MANE Select ENSP00000224784.6:n.991-28_991-27insTCATCATTAGTG
ENST00000371927.7:c.1254+12959_1254+12960insCTAATGATGACA (STAMBPL1) ENSP00000360995.3:n.1254+12959_1254+12960insCTAATGATGACA
ENST00000458208.5:c.991-28_991-27insTCATCATTAGTG (ACTA2) ENSP00000402373.1:n.991-28_991-27insTCATCATTAGTG
NM_001141945.1:c.991-28_991-27insTCATCATTAGTG , LRG_781t2:c.991-28_991-27insTCATCATTAGTG (ACTA2) NP_001135417.1:n.991-28_991-27insTCATCATTAGTG
NM_001613.2:c.991-28_991-27insTCATCATTAGTG , LRG_781t1:c.991-28_991-27insTCATCATTAGTG (ACTA2) NP_001604.1:n.991-28_991-27insTCATCATTAGTG
NR_125373.1:n.1020_1021insCTAATGATGACA (ACTA2-AS1)
XM_011540016.1:c.991-28_991-27insTCATCATTAGTG (ACTA2) XP_011538318.1:n.991-28_991-27insTCATCATTAGTG
NM_001141945.2:c.991-28_991-27insTCATCATTAGTG (ACTA2) NP_001135417.1:n.991-28_991-27insTCATCATTAGTG
NM_001320855.1:c.991-28_991-27insTCATCATTAGTG (ACTA2) NP_001307784.1:n.991-28_991-27insTCATCATTAGTG
NM_001613.3:c.991-28_991-27insTCATCATTAGTG (ACTA2) NP_001604.1:n.991-28_991-27insTCATCATTAGTG
NM_001613.4:c.991-28_991-27insTCATCATTAGTG (ACTA2) MANE Select NP_001604.1:n.991-28_991-27insTCATCATTAGTG