Canonical Allele Identifier: CA2248421413

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992880C= , CM000679.2:g.12992880C=	GRCh38
NC_000017.10:g.12896197C= , CM000679.1:g.12896197C=	GRCh37
NC_000017.9:g.12836922C=	NCBI36
NG_015808.1:g.30185G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2419G= MANE Select	ENSP00000337445.4:p.Glu807=
ENST00000338034.8:c.2419G=	ENSP00000337445.4:p.Glu807=
ENST00000395962.6:c.2362G=	ENSP00000379291.1:p.Glu788=
ENST00000426905.7:c.2299G=	ENSP00000405223.3:p.Glu767=
ENST00000465825.5:n.2306G=
ENST00000480891.5:n.2248G=
ENST00000484122.5:n.3249G=
ENST00000487229.6:n.1965G=
ENST00000584650.5:c.1818G=
NM_001165962.1:c.2299G=	NP_001159434.1:p.Glu767=
NM_018127.6:c.2419G=	NP_060597.4:p.Glu807=
NM_173717.1:c.2416G=	NP_776065.1:p.Glu806=
XM_024450850.1:c.2578G=	XP_024306618.1:p.Glu860=
XM_024450851.1:c.2500G=	XP_024306619.1:p.Glu834=
XM_024450852.1:c.2497G=	XP_024306620.1:p.Glu833=
XM_024450853.1:c.2494G=	XP_024306621.1:p.Glu832=
XM_024450854.1:c.2458G=	XP_024306622.1:p.Glu820=
XM_024450855.1:c.2377G=	XP_024306623.1:p.Glu793=
XM_024450856.1:c.2296G=	XP_024306624.1:p.Glu766=
XM_024450857.1:c.2296G=	XP_024306625.1:p.Glu766=
XM_024450858.1:c.2215G=	XP_024306626.1:p.Glu739=
XM_024450859.1:c.2212G=	XP_024306627.1:p.Glu738=
XM_024450860.1:c.2137G=	XP_024306628.1:p.Glu713=
XM_024450861.1:c.2137G=	XP_024306629.1:p.Glu713=
XM_024450862.1:c.2134G=	XP_024306630.1:p.Glu712=
NM_018127.7:c.2419G= MANE Select	NP_060597.4:p.Glu807=
NM_001165962.2:c.2299G=	NP_001159434.1:p.Glu767=
NM_173717.2:c.2416G=	NP_776065.1:p.Glu806=