Canonical Allele Identifier: CA2763366009

Gene: AFG2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938192_122938193del , CM000666.2:g.122938192_122938193del	GRCh38
NC_000004.11:g.123859347_123859348del , CM000666.1:g.123859347_123859348del	GRCh37
NC_000004.10:g.124078797_124078798del	NCBI36
NG_051570.1:g.20123_20124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1401_1402del MANE Select	ENSP00000274008.3:p.Asn467LysfsTer23
ENST00000674886.1:n.1463_1464del
ENST00000675612.1:c.1398_1399del	ENSP00000502453.1:p.Asn466LysfsTer23
ENST00000274008.4:c.1401_1402del	ENSP00000274008.3:p.Asn467LysfsTer23
ENST00000422835.2:n.1443_1444del
NM_145207.2:c.1401_1402del	NP_660208.2:p.Asn467LysfsTer23
XM_005262783.3:c.1398_1399del	XP_005262840.1:p.Asn466LysfsTer23
XM_011531678.1:c.1398_1399del	XP_011529980.1:p.Asn466LysfsTer23
XM_011531679.1:c.1401_1402del	XP_011529981.1:p.Asn467LysfsTer23
NM_001317799.1:c.1398_1399del	NP_001304728.1:p.Asn466LysfsTer23
NM_001345856.1:c.1398_1399del	NP_001332785.1:p.Asn466LysfsTer23
XM_011531678.2:c.1398_1399del	XP_011529980.1:p.Asn466LysfsTer23
XM_011531679.3:c.1401_1402del	XP_011529981.1:p.Asn467LysfsTer23
XM_017007825.1:c.1401_1402del	XP_016863314.1:p.Asn467LysfsTer23
XM_017007826.1:c.1401_1402del	XP_016863315.1:p.Asn467LysfsTer23
XM_017007827.2:c.1401_1402del	XP_016863316.1:p.Asn467LysfsTer23
XM_017007828.1:c.1179_1180del	XP_016863317.1:p.Asn393LysfsTer23
XM_017007829.1:c.945_946del	XP_016863318.1:p.Asn315LysfsTer23
XM_017007830.1:c.1401_1402del	XP_016863319.1:p.Asn467LysfsTer23
XR_001741151.1:n.1471_1472del
NM_145207.3:c.1401_1402del MANE Select	NP_660208.2:p.Asn467LysfsTer23
NM_001317799.2:c.1398_1399del	NP_001304728.1:p.Asn466LysfsTer23
NM_001345856.2:c.1398_1399del	NP_001332785.1:p.Asn466LysfsTer23