Canonical Allele Identifier: CA2580071452
Gene: AFG2A HGNC NCBI

Linked Data

ClinVar Variation Id: 1960481
ClinVar RCV Id: RCV002715504

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122947222_122947252del , CM000666.2:g.122947222_122947252del GRCh38
NC_000004.11:g.123868377_123868407del , CM000666.1:g.123868377_123868407del GRCh37
NC_000004.10:g.124087827_124087857del NCBI36
NG_051570.1:g.29153_29183del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.1459-11_1478del
ENST00000674886.1:n.1521-11_1540del
ENST00000675612.1:c.1456-11_1475del
ENST00000274008.4:c.1459-11_1478del
ENST00000422835.2:n.1501-11_1520del
NM_145207.2:c.1459-11_1478del
XM_005262783.3:c.1456-11_1475del
XM_011531678.1:c.1456-11_1475del
XM_011531679.1:c.1459-11_1478del
NM_001317799.1:c.1456-11_1475del
NM_001345856.1:c.1456-11_1475del
XM_011531678.2:c.1456-11_1475del
XM_011531679.3:c.1459-11_1478del
XM_017007825.1:c.1459-11_1478del
XM_017007826.1:c.1459-11_1478del
XM_017007827.2:c.1459-11_1478del
XM_017007828.1:c.1237-11_1256del
XM_017007829.1:c.1003-11_1022del
XM_017007830.1:c.1459-11_1478del
XR_001741151.1:n.1529-11_1548del
NM_145207.3:c.1459-11_1478del
NM_001317799.2:c.1456-11_1475del
NM_001345856.2:c.1456-11_1475del