Canonical Allele Identifier: CA1490495071
Gene: AFG2A HGNC NCBI

Linked Data

dbSNP Id: rs1728252125

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122924149del , CM000666.2:g.122924149del GRCh38
NC_000004.11:g.123845304del , CM000666.1:g.123845304del GRCh37
NC_000004.10:g.124064754del NCBI36
NG_030404.1:g.3857del
NG_051570.1:g.6080del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.163+844del MANE Select ENSP00000274008.3:n.163+844del
ENST00000674886.1:n.228+844del
ENST00000675612.1:c.163+844del ENSP00000502453.1:n.163+844del
ENST00000274008.4:c.163+844del ENSP00000274008.3:n.163+844del
ENST00000422835.2:n.205+844del
NM_145207.2:c.163+844del NP_660208.2:n.163+844del
XM_005262783.3:c.163+844del XP_005262840.1:n.163+844del
XM_011531678.1:c.163+844del XP_011529980.1:n.163+844del
XM_011531679.1:c.163+844del XP_011529981.1:n.163+844del
NM_001317799.1:c.163+844del NP_001304728.1:n.163+844del
NM_001345856.1:c.163+844del NP_001332785.1:n.163+844del
XM_011531678.2:c.163+844del XP_011529980.1:n.163+844del
XM_011531679.3:c.163+844del XP_011529981.1:n.163+844del
XM_017007825.1:c.163+844del XP_016863314.1:n.163+844del
XM_017007826.1:c.163+844del XP_016863315.1:n.163+844del
XM_017007827.2:c.163+844del XP_016863316.1:n.163+844del
XM_017007828.1:c.-57+866del XP_016863317.1:n.-57+866del
XM_017007830.1:c.163+844del XP_016863319.1:n.163+844del
XR_001741151.1:n.236+844del
NM_145207.3:c.163+844del MANE Select NP_660208.2:n.163+844del
NM_001317799.2:c.163+844del NP_001304728.1:n.163+844del
NM_001345856.2:c.163+844del NP_001332785.1:n.163+844del