Canonical Allele Identifier: CA2248421365

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992853C= , CM000679.2:g.12992853C=	GRCh38
NC_000017.10:g.12896170C= , CM000679.1:g.12896170C=	GRCh37
NC_000017.9:g.12836895C=	NCBI36
NG_015808.1:g.30212G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2446G= MANE Select	ENSP00000337445.4:p.Glu816=
ENST00000338034.8:c.2446G=	ENSP00000337445.4:p.Glu816=
ENST00000395962.6:c.2389G=	ENSP00000379291.1:p.Glu797=
ENST00000426905.7:c.2326G=	ENSP00000405223.3:p.Glu776=
ENST00000465825.5:n.2333G=
ENST00000480891.5:n.2275G=
ENST00000484122.5:n.3276G=
ENST00000487229.6:n.1992G=
ENST00000584650.5:c.1845G=
NM_001165962.1:c.2326G=	NP_001159434.1:p.Glu776=
NM_018127.6:c.2446G=	NP_060597.4:p.Glu816=
NM_173717.1:c.2443G=	NP_776065.1:p.Glu815=
XM_024450850.1:c.2605G=	XP_024306618.1:p.Glu869=
XM_024450851.1:c.2527G=	XP_024306619.1:p.Glu843=
XM_024450852.1:c.2524G=	XP_024306620.1:p.Glu842=
XM_024450853.1:c.2521G=	XP_024306621.1:p.Glu841=
XM_024450854.1:c.2485G=	XP_024306622.1:p.Glu829=
XM_024450855.1:c.2404G=	XP_024306623.1:p.Glu802=
XM_024450856.1:c.2323G=	XP_024306624.1:p.Glu775=
XM_024450857.1:c.2323G=	XP_024306625.1:p.Glu775=
XM_024450858.1:c.2242G=	XP_024306626.1:p.Glu748=
XM_024450859.1:c.2239G=	XP_024306627.1:p.Glu747=
XM_024450860.1:c.2164G=	XP_024306628.1:p.Glu722=
XM_024450861.1:c.2164G=	XP_024306629.1:p.Glu722=
XM_024450862.1:c.2161G=	XP_024306630.1:p.Glu721=
NM_018127.7:c.2446G= MANE Select	NP_060597.4:p.Glu816=
NM_001165962.2:c.2326G=	NP_001159434.1:p.Glu776=
NM_173717.2:c.2443G=	NP_776065.1:p.Glu815=