Canonical Allele Identifier: CA1490499310
Gene: AFG2A HGNC NCBI

Linked Data

dbSNP Id: rs1728907720

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122934060_122934061del , CM000666.2:g.122934060_122934061del GRCh38
NC_000004.11:g.123855215_123855216del , CM000666.1:g.123855215_123855216del GRCh37
NC_000004.10:g.124074665_124074666del NCBI36
NG_051570.1:g.15991_15992del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.506-37_506-36del MANE Select ENSP00000274008.3:n.506-37_506-36del
ENST00000674886.1:n.568-37_568-36del
ENST00000675392.1:n.80-37_80-36del
ENST00000675612.1:c.503-37_503-36del ENSP00000502453.1:n.503-37_503-36del
ENST00000274008.4:c.506-37_506-36del ENSP00000274008.3:n.506-37_506-36del
ENST00000422835.2:n.548-37_548-36del
NM_145207.2:c.506-37_506-36del NP_660208.2:n.506-37_506-36del
XM_005262783.3:c.503-37_503-36del XP_005262840.1:n.503-37_503-36del
XM_011531678.1:c.503-37_503-36del XP_011529980.1:n.503-37_503-36del
XM_011531679.1:c.506-37_506-36del XP_011529981.1:n.506-37_506-36del
NM_001317799.1:c.503-37_503-36del NP_001304728.1:n.503-37_503-36del
NM_001345856.1:c.503-37_503-36del NP_001332785.1:n.503-37_503-36del
XM_011531678.2:c.503-37_503-36del XP_011529980.1:n.503-37_503-36del
XM_011531679.3:c.506-37_506-36del XP_011529981.1:n.506-37_506-36del
XM_017007825.1:c.506-37_506-36del XP_016863314.1:n.506-37_506-36del
XM_017007826.1:c.506-37_506-36del XP_016863315.1:n.506-37_506-36del
XM_017007827.2:c.506-37_506-36del XP_016863316.1:n.506-37_506-36del
XM_017007828.1:c.284-37_284-36del XP_016863317.1:n.284-37_284-36del
XM_017007829.1:c.50-37_50-36del XP_016863318.1:n.50-37_50-36del
XM_017007830.1:c.506-37_506-36del XP_016863319.1:n.506-37_506-36del
XR_001741151.1:n.576-37_576-36del
NM_145207.3:c.506-37_506-36del MANE Select NP_660208.2:n.506-37_506-36del
NM_001317799.2:c.503-37_503-36del NP_001304728.1:n.503-37_503-36del
NM_001345856.2:c.503-37_503-36del NP_001332785.1:n.503-37_503-36del