Canonical Allele Identifier: CA2671998218

Gene: AFG2A

Linked Data

• gnomAD v4: 4-122938171-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938175del , CM000666.2:g.122938175del	GRCh38
NC_000004.11:g.123859330del , CM000666.1:g.123859330del	GRCh37
NC_000004.10:g.124078780del	NCBI36
NG_051570.1:g.20106del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1384del MANE Select	ENSP00000274008.3:p.Arg462GlufsTer17
ENST00000674886.1:n.1446del
ENST00000675612.1:c.1381del	ENSP00000502453.1:p.Arg461GlufsTer17
ENST00000274008.4:c.1384del	ENSP00000274008.3:p.Arg462GlufsTer17
ENST00000422835.2:n.1426del
NM_145207.2:c.1384del	NP_660208.2:p.Arg462GlufsTer17
XM_005262783.3:c.1381del	XP_005262840.1:p.Arg461GlufsTer17
XM_011531678.1:c.1381del	XP_011529980.1:p.Arg461GlufsTer17
XM_011531679.1:c.1384del	XP_011529981.1:p.Arg462GlufsTer17
NM_001317799.1:c.1381del	NP_001304728.1:p.Arg461GlufsTer17
NM_001345856.1:c.1381del	NP_001332785.1:p.Arg461GlufsTer17
XM_011531678.2:c.1381del	XP_011529980.1:p.Arg461GlufsTer17
XM_011531679.3:c.1384del	XP_011529981.1:p.Arg462GlufsTer17
XM_017007825.1:c.1384del	XP_016863314.1:p.Arg462GlufsTer17
XM_017007826.1:c.1384del	XP_016863315.1:p.Arg462GlufsTer17
XM_017007827.2:c.1384del	XP_016863316.1:p.Arg462GlufsTer17
XM_017007828.1:c.1162del	XP_016863317.1:p.Arg388GlufsTer17
XM_017007829.1:c.928del	XP_016863318.1:p.Arg310GlufsTer17
XM_017007830.1:c.1384del	XP_016863319.1:p.Arg462GlufsTer17
XR_001741151.1:n.1454del
NM_145207.3:c.1384del MANE Select	NP_660208.2:p.Arg462GlufsTer17
NM_001317799.2:c.1381del	NP_001304728.1:p.Arg461GlufsTer17
NM_001345856.2:c.1381del	NP_001332785.1:p.Arg461GlufsTer17