Canonical Allele Identifier: CA1926603539
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Linked Data

dbSNP Id: rs1845851901

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88941521_88941525del , CM000672.2:g.88941521_88941525del GRCh38
NC_000010.10:g.90701278_90701282del , CM000672.1:g.90701278_90701282del GRCh37
NC_000010.9:g.90691258_90691262del NCBI36
NG_011541.1:g.54866_54870del , LRG_781:g.54866_54870del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.455-135_455-131del (ACTA2) ENSP00000396730.2:n.455-135_455-131del
ENST00000458159.6:c.455-135_455-131del (ACTA2) ENSP00000398239.2:n.455-135_455-131del
ENST00000480297.6:n.521-135_521-131del (ACTA2)
ENST00000224784.10:c.455-135_455-131del (ACTA2) MANE Select ENSP00000224784.6:n.455-135_455-131del
ENST00000371927.7:c.1254+19085_1254+19089del (STAMBPL1) ENSP00000360995.3:n.1254+19085_1254+19089del
ENST00000458208.5:c.455-135_455-131del (ACTA2) ENSP00000402373.1:n.455-135_455-131del
ENST00000480297.5:n.495-135_495-131del (ACTA2)
NM_001141945.1:c.455-135_455-131del , LRG_781t2:c.455-135_455-131del (ACTA2) NP_001135417.1:n.455-135_455-131del
NM_001613.2:c.455-135_455-131del , LRG_781t1:c.455-135_455-131del (ACTA2) NP_001604.1:n.455-135_455-131del
XM_011540016.1:c.455-135_455-131del (ACTA2) XP_011538318.1:n.455-135_455-131del
NM_001141945.2:c.455-135_455-131del (ACTA2) NP_001135417.1:n.455-135_455-131del
NM_001320855.1:c.455-135_455-131del (ACTA2) NP_001307784.1:n.455-135_455-131del
NM_001613.3:c.455-135_455-131del (ACTA2) NP_001604.1:n.455-135_455-131del
NM_001613.4:c.455-135_455-131del (ACTA2) MANE Select NP_001604.1:n.455-135_455-131del