Canonical Allele Identifier: CA2248421488

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992907C= , CM000679.2:g.12992907C=	GRCh38
NC_000017.10:g.12896224C= , CM000679.1:g.12896224C=	GRCh37
NC_000017.9:g.12836949C=	NCBI36
NG_015808.1:g.30158G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2392G= MANE Select	ENSP00000337445.4:p.Glu798=
ENST00000338034.8:c.2392G=	ENSP00000337445.4:p.Glu798=
ENST00000395962.6:c.2335G=	ENSP00000379291.1:p.Glu779=
ENST00000426905.7:c.2272G=	ENSP00000405223.3:p.Glu758=
ENST00000465825.5:n.2279G=
ENST00000480891.5:n.2221G=
ENST00000484122.5:n.3222G=
ENST00000487229.6:n.1938G=
ENST00000584650.5:c.1791G=
NM_001165962.1:c.2272G=	NP_001159434.1:p.Glu758=
NM_018127.6:c.2392G=	NP_060597.4:p.Glu798=
NM_173717.1:c.2389G=	NP_776065.1:p.Glu797=
XM_024450850.1:c.2551G=	XP_024306618.1:p.Glu851=
XM_024450851.1:c.2473G=	XP_024306619.1:p.Glu825=
XM_024450852.1:c.2470G=	XP_024306620.1:p.Glu824=
XM_024450853.1:c.2467G=	XP_024306621.1:p.Glu823=
XM_024450854.1:c.2431G=	XP_024306622.1:p.Glu811=
XM_024450855.1:c.2350G=	XP_024306623.1:p.Glu784=
XM_024450856.1:c.2269G=	XP_024306624.1:p.Glu757=
XM_024450857.1:c.2269G=	XP_024306625.1:p.Glu757=
XM_024450858.1:c.2188G=	XP_024306626.1:p.Glu730=
XM_024450859.1:c.2185G=	XP_024306627.1:p.Glu729=
XM_024450860.1:c.2110G=	XP_024306628.1:p.Glu704=
XM_024450861.1:c.2110G=	XP_024306629.1:p.Glu704=
XM_024450862.1:c.2107G=	XP_024306630.1:p.Glu703=
NM_018127.7:c.2392G= MANE Select	NP_060597.4:p.Glu798=
NM_001165962.2:c.2272G=	NP_001159434.1:p.Glu758=
NM_173717.2:c.2389G=	NP_776065.1:p.Glu797=