Canonical Allele Identifier: CA026673

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 1313236
• ClinVar RCV Id: RCV001769187
• dbSNP Id: rs775742052
• ExAC: 10:90695109 C / T
• gnomAD v2: 10-90695109-C-T
• gnomAD v4: 10-88935352-C-T
• COSMIC: COSM158657
• MyVariant Identifiers: chr10:g.90695109C>T (hg19) ; chr10:g.88935352C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935352C>T , CM000672.2:g.88935352C>T	GRCh38
NC_000010.10:g.90695109C>T , CM000672.1:g.90695109C>T	GRCh37
NC_000010.9:g.90685089C>T	NCBI36
NG_011541.1:g.61039G>A , LRG_781:g.61039G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.1005G>A (ACTA2)	ENSP00000396730.2:p.Pro335=
ENST00000458159.6:c.1005G>A (ACTA2)	ENSP00000398239.2:p.Pro335=
ENST00000480297.6:n.2601G>A (ACTA2)
ENST00000224784.10:c.1005G>A (ACTA2) MANE Select	ENSP00000224784.6:p.Pro335=
ENST00000371927.7:c.1254+12916C>T (STAMBPL1)	ENSP00000360995.3:n.1254+12916C>T
ENST00000458208.5:c.1005G>A (ACTA2)	ENSP00000402373.1:p.Pro335=
NM_001141945.1:c.1005G>A , LRG_781t2:c.1005G>A (ACTA2)	NP_001135417.1:p.Pro335=
NM_001613.2:c.1005G>A , LRG_781t1:c.1005G>A (ACTA2)	NP_001604.1:p.Pro335=
NR_125373.1:n.977C>T (ACTA2-AS1)
XM_011540016.1:c.1005G>A (ACTA2)	XP_011538318.1:p.Pro335=
NM_001141945.2:c.1005G>A (ACTA2)	NP_001135417.1:p.Pro335=
NM_001320855.1:c.1005G>A (ACTA2)	NP_001307784.1:p.Pro335=
NM_001613.3:c.1005G>A (ACTA2)	NP_001604.1:p.Pro335=
NM_001613.4:c.1005G>A (ACTA2) MANE Select	NP_001604.1:p.Pro335=