LDH info

Canonical Allele Identifier: CA007052
Gene: ACTA2 HGNC NCBI
ACTA2-AS1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 199676
ClinVar RCV Id: RCV000181029
dbSNP Id: rs794728029

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.88938242C>T , CM000672.2:g.88938242C>T GRCh38
NC_000010.10:g.90697999C>T , CM000672.1:g.90697999C>T GRCh37
NC_000010.9:g.90687979C>T NCBI36
NG_011541.1:g.58149G>A , LRG_781:g.58149G>A

Transcript Alleles

HGVS Amino-acid change
NM_001141945.1:c.809G>A , LRG_781t2:c.809G>A (ACTA2) NP_001135417.1:p.Gly270Glu
NM_001613.2:c.809G>A , LRG_781t1:c.809G>A (ACTA2) NP_001604.1:p.Gly270Glu
NR_125373.1:n.1229C>T (ACTA2-AS1)
XM_011540016.1:c.809G>A (ACTA2) XP_011538318.1:p.Gly270Glu
NM_001141945.2:c.809G>A (ACTA2) VV NP_001135417.1:p.Gly270Glu
NM_001320855.1:c.809G>A (ACTA2) VV NP_001307784.1:p.Gly270Glu
NM_001613.3:c.809G>A (ACTA2) VV NP_001604.1:p.Gly270Glu
NM_001613.4:c.809G>A (ACTA2) VV NP_001604.1:p.Gly270Glu
ENST00000224784.10:c.809G>A ENSP00000224784.6:p.Gly270Glu
ENST00000371927.7:c.1254+15806C>T ENSP00000360995.3:p.=
ENST00000458208.5:c.809G>A ENSP00000402373.1:p.Gly270Glu