Canonical Allele Identifier: CA211319690

Gene: ACTA2 STAMBPL1

Linked Data

• dbSNP Id: rs548936061
• gnomAD v3: 10-88940956-A-AT
• gnomAD v4: 10-88940956-A-AT
• MyVariant Identifiers: chr10:g.90700713_90700714insT (hg19) ; chr10:g.88940956_88940957insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88940959dup , CM000672.2:g.88940959dup	GRCh38
NC_000010.10:g.90700716dup , CM000672.1:g.90700716dup	GRCh37
NC_000010.9:g.90690696dup	NCBI36
NG_011541.1:g.55434dup , LRG_781:g.55434dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.616+272dup (ACTA2)	ENSP00000396730.2:n.616+272dup
ENST00000458159.6:c.616+272dup (ACTA2)	ENSP00000398239.2:n.616+272dup
ENST00000480297.6:n.954dup (ACTA2)
ENST00000224784.10:c.616+272dup (ACTA2) MANE Select	ENSP00000224784.6:n.616+272dup
ENST00000371927.7:c.1254+18523dup (STAMBPL1)	ENSP00000360995.3:n.1254+18523dup
ENST00000458208.5:c.616+272dup (ACTA2)	ENSP00000402373.1:n.616+272dup
NM_001141945.1:c.616+272dup , LRG_781t2:c.616+272dup (ACTA2)	NP_001135417.1:n.616+272dup
NM_001613.2:c.616+272dup , LRG_781t1:c.616+272dup (ACTA2)	NP_001604.1:n.616+272dup
XM_011540016.1:c.616+272dup (ACTA2)	XP_011538318.1:n.616+272dup
NM_001141945.2:c.616+272dup (ACTA2)	NP_001135417.1:n.616+272dup
NM_001320855.1:c.616+272dup (ACTA2)	NP_001307784.1:n.616+272dup
NM_001613.3:c.616+272dup (ACTA2)	NP_001604.1:n.616+272dup
NM_001613.4:c.616+272dup (ACTA2) MANE Select	NP_001604.1:n.616+272dup