Canonical Allele Identifier: CA211318883

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• dbSNP Id: rs909940429
• gnomAD v3: 10-88937994-T-C
• gnomAD v4: 10-88937994-T-C
• MyVariant Identifiers: chr10:g.90697751T>C (hg19) ; chr10:g.88937994T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88937994T>C , CM000672.2:g.88937994T>C	GRCh38
NC_000010.10:g.90697751T>C , CM000672.1:g.90697751T>C	GRCh37
NC_000010.9:g.90687731T>C	NCBI36
NG_011541.1:g.58397A>G , LRG_781:g.58397A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.990+67A>G (ACTA2)	ENSP00000396730.2:n.990+67A>G
ENST00000458159.6:c.990+67A>G (ACTA2)	ENSP00000398239.2:n.990+67A>G
ENST00000480297.6:n.2586+67A>G (ACTA2)
ENST00000224784.10:c.990+67A>G (ACTA2) MANE Select	ENSP00000224784.6:n.990+67A>G
ENST00000371927.7:c.1254+15558T>C (STAMBPL1)	ENSP00000360995.3:n.1254+15558T>C
ENST00000458208.5:c.990+67A>G (ACTA2)	ENSP00000402373.1:n.990+67A>G
NM_001141945.1:c.990+67A>G , LRG_781t2:c.990+67A>G (ACTA2)	NP_001135417.1:n.990+67A>G
NM_001613.2:c.990+67A>G , LRG_781t1:c.990+67A>G (ACTA2)	NP_001604.1:n.990+67A>G
NR_125373.1:n.1199-218T>C (ACTA2-AS1)
XM_011540016.1:c.990+67A>G (ACTA2)	XP_011538318.1:n.990+67A>G
NM_001141945.2:c.990+67A>G (ACTA2)	NP_001135417.1:n.990+67A>G
NM_001320855.1:c.990+67A>G (ACTA2)	NP_001307784.1:n.990+67A>G
NM_001613.3:c.990+67A>G (ACTA2)	NP_001604.1:n.990+67A>G
NM_001613.4:c.990+67A>G (ACTA2) MANE Select	NP_001604.1:n.990+67A>G