Canonical Allele Identifier: CA594940950

Gene: ACTA2 STAMBPL1

Linked Data

• dbSNP Id: rs1439916983
• gnomAD v2: 10-90706710-CG-C
• gnomAD v3: 10-88946953-CG-C
• gnomAD v4: 10-88946953-CG-C
• MyVariant Identifiers: chr10:g.90706711del (hg19) ; chr10:g.88946954del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88946954del , CM000672.2:g.88946954del	GRCh38
NC_000010.10:g.90706711del , CM000672.1:g.90706711del	GRCh37
NC_000010.9:g.90696691del	NCBI36
NG_011541.1:g.49437del , LRG_781:g.49437del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000415557.2:c.258+304del (ACTA2)	ENSP00000396730.2:n.258+304del
ENST00000458159.6:c.258+304del (ACTA2)	ENSP00000398239.2:n.258+304del
ENST00000480297.6:n.324+304del (ACTA2)
ENST00000482085.2:n.1739+304del (ACTA2)
ENST00000224784.10:c.258+304del (ACTA2) MANE Select	ENSP00000224784.6:n.258+304del
ENST00000371927.7:c.1254+24518del (STAMBPL1)	ENSP00000360995.3:n.1254+24518del
ENST00000415557.1:c.258+304del (ACTA2)	ENSP00000396730.1:n.258+304del
ENST00000458159.5:c.258+304del (ACTA2)	ENSP00000398239.1:n.258+304del
ENST00000458208.5:c.258+304del (ACTA2)	ENSP00000402373.1:n.258+304del
ENST00000480297.5:n.298+304del (ACTA2)
ENST00000488967.5:n.628del (ACTA2)
NM_001141945.1:c.258+304del , LRG_781t2:c.258+304del (ACTA2)	NP_001135417.1:n.258+304del
NM_001613.2:c.258+304del , LRG_781t1:c.258+304del (ACTA2)	NP_001604.1:n.258+304del
XM_011540016.1:c.258+304del (ACTA2)	XP_011538318.1:n.258+304del
NM_001141945.2:c.258+304del (ACTA2)	NP_001135417.1:n.258+304del
NM_001320855.1:c.258+304del (ACTA2)	NP_001307784.1:n.258+304del
NM_001613.3:c.258+304del (ACTA2)	NP_001604.1:n.258+304del
NM_001613.4:c.258+304del (ACTA2) MANE Select	NP_001604.1:n.258+304del