Canonical Allele Identifier: CA470733705

Gene: ACTA2 STAMBPL1

Linked Data

• ClinVar Variation Id: 2911132
• ClinVar RCV Id: RCV003634202
• MyVariant Identifiers: chr10:g.90701014A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941257A>C , CM000672.2:g.88941257A>C	GRCh38
NC_000010.10:g.90701014A>C , CM000672.1:g.90701014A>C	GRCh37
NC_000010.9:g.90690994A>C	NCBI36
NG_011541.1:g.55134T>G , LRG_781:g.55134T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.588T>G (ACTA2)	ENSP00000396730.2:p.Thr196=
ENST00000458159.6:c.588T>G (ACTA2)	ENSP00000398239.2:p.Thr196=
ENST00000480297.6:n.654T>G (ACTA2)
ENST00000224784.10:c.588T>G (ACTA2) MANE Select	ENSP00000224784.6:p.Thr196=
ENST00000371927.7:c.1254+18821A>C (STAMBPL1)	ENSP00000360995.3:n.1254+18821A>C
ENST00000458208.5:c.588T>G (ACTA2)	ENSP00000402373.1:p.Thr196=
ENST00000480297.5:n.628T>G (ACTA2)
NM_001141945.1:c.588T>G , LRG_781t2:c.588T>G (ACTA2)	NP_001135417.1:p.Thr196=
NM_001613.2:c.588T>G , LRG_781t1:c.588T>G (ACTA2)	NP_001604.1:p.Thr196=
XM_011540016.1:c.588T>G (ACTA2)	XP_011538318.1:p.Thr196=
NM_001141945.2:c.588T>G (ACTA2)	NP_001135417.1:p.Thr196=
NM_001320855.1:c.588T>G (ACTA2)	NP_001307784.1:p.Thr196=
NM_001613.3:c.588T>G (ACTA2)	NP_001604.1:p.Thr196=
NM_001613.4:c.588T>G (ACTA2) MANE Select	NP_001604.1:p.Thr196=