Canonical Allele Identifier: CA2578190375
Gene: AFG2A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.122934056_122934059del , CM000666.2:g.122934056_122934059del GRCh38
NC_000004.11:g.123855211_123855214del , CM000666.1:g.123855211_123855214del GRCh37
NC_000004.10:g.124074661_124074664del NCBI36
NG_051570.1:g.15987_15990del

Transcript Alleles

HGVS Amino-acid Change
ENST00000274008.5:c.506-41_506-38del MANE Select ENSP00000274008.3:n.506-41_506-38del
ENST00000674886.1:n.568-41_568-38del
ENST00000675392.1:n.80-41_80-38del
ENST00000675612.1:c.503-41_503-38del ENSP00000502453.1:n.503-41_503-38del
ENST00000274008.4:c.506-41_506-38del ENSP00000274008.3:n.506-41_506-38del
ENST00000422835.2:n.548-41_548-38del
NM_145207.2:c.506-41_506-38del NP_660208.2:n.506-41_506-38del
XM_005262783.3:c.503-41_503-38del XP_005262840.1:n.503-41_503-38del
XM_011531678.1:c.503-41_503-38del XP_011529980.1:n.503-41_503-38del
XM_011531679.1:c.506-41_506-38del XP_011529981.1:n.506-41_506-38del
NM_001317799.1:c.503-41_503-38del NP_001304728.1:n.503-41_503-38del
NM_001345856.1:c.503-41_503-38del NP_001332785.1:n.503-41_503-38del
XM_011531678.2:c.503-41_503-38del XP_011529980.1:n.503-41_503-38del
XM_011531679.3:c.506-41_506-38del XP_011529981.1:n.506-41_506-38del
XM_017007825.1:c.506-41_506-38del XP_016863314.1:n.506-41_506-38del
XM_017007826.1:c.506-41_506-38del XP_016863315.1:n.506-41_506-38del
XM_017007827.2:c.506-41_506-38del XP_016863316.1:n.506-41_506-38del
XM_017007828.1:c.284-41_284-38del XP_016863317.1:n.284-41_284-38del
XM_017007829.1:c.50-41_50-38del XP_016863318.1:n.50-41_50-38del
XM_017007830.1:c.506-41_506-38del XP_016863319.1:n.506-41_506-38del
XR_001741151.1:n.576-41_576-38del
NM_145207.3:c.506-41_506-38del MANE Select NP_660208.2:n.506-41_506-38del
NM_001317799.2:c.503-41_503-38del NP_001304728.1:n.503-41_503-38del
NM_001345856.2:c.503-41_503-38del NP_001332785.1:n.503-41_503-38del