Canonical Allele Identifier: CA470736674
Gene: ACTA2 HGNC NCBI
STAMBPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88947389_88947390insT , CM000672.2:g.88947389_88947390insT GRCh38
NC_000010.10:g.90707146_90707147insT , CM000672.1:g.90707146_90707147insT GRCh37
NC_000010.9:g.90697126_90697127insT NCBI36
NG_011541.1:g.49001_49002insA , LRG_781:g.49001_49002insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000415557.2:c.130-4_130-3insA (ACTA2) ENSP00000396730.2:n.130-4_130-3insA
ENST00000458159.6:c.130-4_130-3insA (ACTA2) ENSP00000398239.2:n.130-4_130-3insA
ENST00000480297.6:n.196-4_196-3insA (ACTA2)
ENST00000482085.2:n.1607_1608insA (ACTA2)
ENST00000224784.10:c.130-4_130-3insA (ACTA2) MANE Select ENSP00000224784.6:n.130-4_130-3insA
ENST00000371927.7:c.1254+24953_1254+24954insT (STAMBPL1) ENSP00000360995.3:n.1254+24953_1254+24954insT
ENST00000415557.1:c.130-4_130-3insA (ACTA2) ENSP00000396730.1:n.130-4_130-3insA
ENST00000458159.5:c.130-4_130-3insA (ACTA2) ENSP00000398239.1:n.130-4_130-3insA
ENST00000458208.5:c.130-4_130-3insA (ACTA2) ENSP00000402373.1:n.130-4_130-3insA
ENST00000480297.5:n.170-4_170-3insA (ACTA2)
ENST00000488967.5:n.196-4_196-3insA (ACTA2)
NM_001141945.1:c.130-4_130-3insA , LRG_781t2:c.130-4_130-3insA (ACTA2) NP_001135417.1:n.130-4_130-3insA
NM_001613.2:c.130-4_130-3insA , LRG_781t1:c.130-4_130-3insA (ACTA2) NP_001604.1:n.130-4_130-3insA
XM_011540016.1:c.130-4_130-3insA (ACTA2) XP_011538318.1:n.130-4_130-3insA
NM_001141945.2:c.130-4_130-3insA (ACTA2) NP_001135417.1:n.130-4_130-3insA
NM_001320855.1:c.130-4_130-3insA (ACTA2) NP_001307784.1:n.130-4_130-3insA
NM_001613.3:c.130-4_130-3insA (ACTA2) NP_001604.1:n.130-4_130-3insA
NM_001613.4:c.130-4_130-3insA (ACTA2) MANE Select NP_001604.1:n.130-4_130-3insA