Canonical Allele Identifier: CA1139661615

Gene: ACTA2 STAMBPL1 ACTA2-AS1

Linked Data

• ClinVar Variation Id: 927073
• ClinVar RCV Id: RCV001190085
• dbSNP Id: rs1845709130

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88935185_88935217del , CM000672.2:g.88935185_88935217del	GRCh38
NC_000010.10:g.90694942_90694974del , CM000672.1:g.90694942_90694974del	GRCh37
NC_000010.9:g.90684922_90684954del	NCBI36
NG_011541.1:g.61174_61206del , LRG_781:g.61174_61206del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.*6_*38del (ACTA2)	ENSP00000396730.2:n.*6_*38del
ENST00000458159.6:c.*6_*38del (ACTA2)	ENSP00000398239.2:n.*6_*38del
ENST00000480297.6:n.2736_2768del (ACTA2)
ENST00000224784.10:c.*6_*38del (ACTA2) MANE Select	ENSP00000224784.6:n.*6_*38del
ENST00000371927.7:c.1254+12749_1254+12781del (STAMBPL1)	ENSP00000360995.3:n.1254+12749_1254+12781del
ENST00000458208.5:c.*6_*38del (ACTA2)	ENSP00000402373.1:n.*6_*38del
NM_001141945.1:c.*6_*38del , LRG_781t2:c.*6_*38del (ACTA2)	NP_001135417.1:n.*6_*38del
NM_001613.2:c.*6_*38del , LRG_781t1:c.*6_*38del (ACTA2)	NP_001604.1:n.*6_*38del
NR_125373.1:n.810_842del (ACTA2-AS1)
XM_011540016.1:c.*6_*38del (ACTA2)	XP_011538318.1:n.*6_*38del
NM_001141945.2:c.*6_*38del (ACTA2)	NP_001135417.1:n.*6_*38del
NM_001320855.1:c.*6_*38del (ACTA2)	NP_001307784.1:n.*6_*38del
NM_001613.3:c.*6_*38del (ACTA2)	NP_001604.1:n.*6_*38del
NM_001613.4:c.*6_*38del (ACTA2) MANE Select	NP_001604.1:n.*6_*38del