Canonical Allele Identifier: CA2604123265

Gene: AFG2A

Linked Data

• gnomAD v3: 4-122938127-C-CT
• gnomAD v4: 4-122938127-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122938127_122938128insT , CM000666.2:g.122938127_122938128insT	GRCh38
NC_000004.11:g.123859282_123859283insT , CM000666.1:g.123859282_123859283insT	GRCh37
NC_000004.10:g.124078732_124078733insT	NCBI36
NG_051570.1:g.20058_20059insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1336_1337insT MANE Select	ENSP00000274008.3:p.His446LeufsTer8
ENST00000674886.1:n.1398_1399insT
ENST00000675612.1:c.1333_1334insT	ENSP00000502453.1:p.His445LeufsTer8
ENST00000274008.4:c.1336_1337insT	ENSP00000274008.3:p.His446LeufsTer8
ENST00000422835.2:n.1378_1379insT
NM_145207.2:c.1336_1337insT	NP_660208.2:p.His446LeufsTer8
XM_005262783.3:c.1333_1334insT	XP_005262840.1:p.His445LeufsTer8
XM_011531678.1:c.1333_1334insT	XP_011529980.1:p.His445LeufsTer8
XM_011531679.1:c.1336_1337insT	XP_011529981.1:p.His446LeufsTer8
NM_001317799.1:c.1333_1334insT	NP_001304728.1:p.His445LeufsTer8
NM_001345856.1:c.1333_1334insT	NP_001332785.1:p.His445LeufsTer8
XM_011531678.2:c.1333_1334insT	XP_011529980.1:p.His445LeufsTer8
XM_011531679.3:c.1336_1337insT	XP_011529981.1:p.His446LeufsTer8
XM_017007825.1:c.1336_1337insT	XP_016863314.1:p.His446LeufsTer8
XM_017007826.1:c.1336_1337insT	XP_016863315.1:p.His446LeufsTer8
XM_017007827.2:c.1336_1337insT	XP_016863316.1:p.His446LeufsTer8
XM_017007828.1:c.1114_1115insT	XP_016863317.1:p.His372LeufsTer8
XM_017007829.1:c.880_881insT	XP_016863318.1:p.His294LeufsTer8
XM_017007830.1:c.1336_1337insT	XP_016863319.1:p.His446LeufsTer8
XR_001741151.1:n.1406_1407insT
NM_145207.3:c.1336_1337insT MANE Select	NP_660208.2:p.His446LeufsTer8
NM_001317799.2:c.1333_1334insT	NP_001304728.1:p.His445LeufsTer8
NM_001345856.2:c.1333_1334insT	NP_001332785.1:p.His445LeufsTer8