Canonical Allele Identifier: CA669659814
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs1327110638

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88935436_88935444del , CM000672.2:g.88935436_88935444del GRCh38
NC_000010.10:g.90695193_90695201del , CM000672.1:g.90695193_90695201del GRCh37
NC_000010.9:g.90685173_90685181del NCBI36
NG_011541.1:g.60948_60956del , LRG_781:g.60948_60956del

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.991-77_991-69del (ACTA2) ENSP00000396730.2:n.991-77_991-69del
ENST00000458159.6:c.991-77_991-69del (ACTA2) ENSP00000398239.2:n.991-77_991-69del
ENST00000480297.6:n.2587-77_2587-69del (ACTA2)
ENST00000224784.10:c.991-77_991-69del (ACTA2) MANE Select ENSP00000224784.6:n.991-77_991-69del
ENST00000371927.7:c.1254+13000_1254+13008del (STAMBPL1) ENSP00000360995.3:n.1254+13000_1254+13008del
ENST00000458208.5:c.991-77_991-69del (ACTA2) ENSP00000402373.1:n.991-77_991-69del
NM_001141945.1:c.991-77_991-69del , LRG_781t2:c.991-77_991-69del (ACTA2) NP_001135417.1:n.991-77_991-69del
NM_001613.2:c.991-77_991-69del , LRG_781t1:c.991-77_991-69del (ACTA2) NP_001604.1:n.991-77_991-69del
NR_125373.1:n.1061_1069del (ACTA2-AS1)
XM_011540016.1:c.991-77_991-69del (ACTA2) XP_011538318.1:n.991-77_991-69del
NM_001141945.2:c.991-77_991-69del (ACTA2) NP_001135417.1:n.991-77_991-69del
NM_001320855.1:c.991-77_991-69del (ACTA2) NP_001307784.1:n.991-77_991-69del
NM_001613.3:c.991-77_991-69del (ACTA2) NP_001604.1:n.991-77_991-69del
NM_001613.4:c.991-77_991-69del (ACTA2) MANE Select NP_001604.1:n.991-77_991-69del