Canonical Allele Identifier: CA7543193

Gene: AFG2B

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.45403035_45403048dup , CM000677.2:g.45403035_45403048dup	GRCh38
NC_000015.9:g.45695233_45695246dup , CM000677.1:g.45695233_45695246dup	GRCh37
NC_000015.8:g.43482525_43482538dup	NCBI36
NG_011674.2:g.4270_4283dup

Transcript Alleles

HGVS	Amino-acid Change
NM_024063.3:c.606_619dup MANE Select	NP_076968.2:p.Glu207GlyfsTer25
ENST00000305560.11:c.606_619dup MANE Select	ENSP00000305494.6:p.Glu207GlyfsTer25
NM_001323640.1:c.606_619dup	NP_001310569.1:p.Glu207GlyfsTer25
NM_001323640.2:c.606_619dup	NP_001310569.1:p.Glu207GlyfsTer25
NM_024063.2:c.606_619dup	NP_076968.2:p.Glu207GlyfsTer25
NR_027635.1:n.715_728dup
NR_027635.2:n.700_713dup
NR_136645.1:n.715_728dup
NR_136645.2:n.700_713dup
NR_136646.1:n.715_728dup
NR_136646.2:n.700_713dup
NR_136647.1:n.715_728dup
NR_136647.2:n.700_713dup
NR_136648.1:n.715_728dup
NR_136648.2:n.700_713dup
ENST00000305560.10:c.606_619dup	ENSP00000305494.6:p.Glu207GlyfsTer25
ENST00000531970.5:c.606_619dup	ENSP00000436823.1:p.Glu207GlyfsTer25
ENST00000559860.2:n.666_679dup
XM_005254657.3:c.606_619dup	XP_005254714.1:p.Glu207GlyfsTer25
XR_001751383.2:n.648_661dup
XR_243126.3:n.763_776dup