Canonical Allele Identifier: CA1490506364

Gene: AFG2A

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.122947423T= , CM000666.2:g.122947423T=	GRCh38
NC_000004.11:g.123868578T= , CM000666.1:g.123868578T=	GRCh37
NC_000004.10:g.124088028T=	NCBI36
NG_051570.1:g.29354T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274008.5:c.1649T= MANE Select	ENSP00000274008.3:p.Leu550=
ENST00000674886.1:n.1711T=
ENST00000675612.1:c.1646T=	ENSP00000502453.1:p.Leu549=
ENST00000274008.4:c.1649T=	ENSP00000274008.3:p.Leu550=
ENST00000422835.2:n.1691T=
NM_145207.2:c.1649T=	NP_660208.2:p.Leu550=
XM_005262783.3:c.1646T=	XP_005262840.1:p.Leu549=
XM_011531678.1:c.1646T=	XP_011529980.1:p.Leu549=
XM_011531679.1:c.1649T=	XP_011529981.1:p.Leu550=
NM_001317799.1:c.1646T=	NP_001304728.1:p.Leu549=
NM_001345856.1:c.1646T=	NP_001332785.1:p.Leu549=
XM_011531678.2:c.1646T=	XP_011529980.1:p.Leu549=
XM_011531679.3:c.1649T=	XP_011529981.1:p.Leu550=
XM_017007825.1:c.1649T=	XP_016863314.1:p.Leu550=
XM_017007826.1:c.1649T=	XP_016863315.1:p.Leu550=
XM_017007827.2:c.1649T=	XP_016863316.1:p.Leu550=
XM_017007828.1:c.1427T=	XP_016863317.1:p.Leu476=
XM_017007829.1:c.1193T=	XP_016863318.1:p.Leu398=
XM_017007830.1:c.1649T=	XP_016863319.1:p.Leu550=
XR_001741151.1:n.1719T=
NM_145207.3:c.1649T= MANE Select	NP_660208.2:p.Leu550=
NM_001317799.2:c.1646T=	NP_001304728.1:p.Leu549=
NM_001345856.2:c.1646T=	NP_001332785.1:p.Leu549=