Canonical Allele Identifier: CA2610073643

Gene: ACTA2 STAMBPL1

Linked Data

• gnomAD v4: 10-88941180-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.88941180C>T , CM000672.2:g.88941180C>T	GRCh38
NC_000010.10:g.90700937C>T , CM000672.1:g.90700937C>T	GRCh37
NC_000010.9:g.90690917C>T	NCBI36
NG_011541.1:g.55211G>A , LRG_781:g.55211G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000415557.2:c.616+49G>A (ACTA2)	ENSP00000396730.2:n.616+49G>A
ENST00000458159.6:c.616+49G>A (ACTA2)	ENSP00000398239.2:n.616+49G>A
ENST00000480297.6:n.731G>A (ACTA2)
ENST00000224784.10:c.616+49G>A (ACTA2) MANE Select	ENSP00000224784.6:n.616+49G>A
ENST00000371927.7:c.1254+18744C>T (STAMBPL1)	ENSP00000360995.3:n.1254+18744C>T
ENST00000458208.5:c.616+49G>A (ACTA2)	ENSP00000402373.1:n.616+49G>A
ENST00000480297.5:n.705G>A (ACTA2)
NM_001141945.1:c.616+49G>A , LRG_781t2:c.616+49G>A (ACTA2)	NP_001135417.1:n.616+49G>A
NM_001613.2:c.616+49G>A , LRG_781t1:c.616+49G>A (ACTA2)	NP_001604.1:n.616+49G>A
XM_011540016.1:c.616+49G>A (ACTA2)	XP_011538318.1:n.616+49G>A
NM_001141945.2:c.616+49G>A (ACTA2)	NP_001135417.1:n.616+49G>A
NM_001320855.1:c.616+49G>A (ACTA2)	NP_001307784.1:n.616+49G>A
NM_001613.3:c.616+49G>A (ACTA2)	NP_001604.1:n.616+49G>A
NM_001613.4:c.616+49G>A (ACTA2) MANE Select	NP_001604.1:n.616+49G>A