Canonical Allele Identifier: CA028538

Gene: ACTA2 STAMBPL1

Linked Data

• dbSNP Id: rs759485973
• ExAC: 10:90701186 T / TGAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTG
• MyVariant Identifiers: chr10:g.90701186_90701187insGAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTG (hg19) ; chr10:g.88941429_88941430insGAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941430_88941431insAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGG , CM000672.2:g.88941430_88941431insAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGG	GRCh38
NC_000010.10:g.90701187_90701188insAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGG , CM000672.1:g.90701187_90701188insAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGG	GRCh37
NC_000010.9:g.90691167_90691168insAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGG	NCBI36
NG_011541.1:g.54961_54962insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC , LRG_781:g.54961_54962insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	ENSP00000396730.2:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGT...
ENST00000458159.6:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	ENSP00000398239.2:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGT...
ENST00000480297.6:n.521-40_521-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)
ENST00000224784.10:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2) MANE Select	ENSP00000224784.6:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGT...
ENST00000371927.7:c.1254+18994_1254+18995insAGTAGCGGATCCTTTTGTACCATAACATTTTTTGGGGTGGGTGG (STAMBPL1)	ENSP00000360995.3:n.1254+18994_1254+18995insAGTAGCGGATCCTTTTG...
ENST00000458208.5:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	ENSP00000402373.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGT...
ENST00000480297.5:n.495-40_495-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)
NM_001141945.1:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC , LRG_781t2:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	NP_001135417.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACA...
NM_001613.2:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC , LRG_781t1:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	NP_001604.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAA...
XM_011540016.1:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	XP_011538318.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACA...
NM_001141945.2:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	NP_001135417.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACA...
NM_001320855.1:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	NP_001307784.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACA...
NM_001613.3:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2)	NP_001604.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAA...
NM_001613.4:c.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAAGGATCCGCTACTC (ACTA2) MANE Select	NP_001604.1:n.455-40_455-39insCACCCACCCCAAAAAATGTTATGGTACAAAA...