Canonical Allele Identifier: CA2248421662

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992970C= , CM000679.2:g.12992970C=	GRCh38
NC_000017.10:g.12896287C= , CM000679.1:g.12896287C=	GRCh37
NC_000017.9:g.12837012C=	NCBI36
NG_015808.1:g.30095G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2329G= MANE Select	ENSP00000337445.4:p.Glu777=
ENST00000338034.8:c.2329G=	ENSP00000337445.4:p.Glu777=
ENST00000395962.6:c.2272G=	ENSP00000379291.1:p.Glu758=
ENST00000426905.7:c.2209G=	ENSP00000405223.3:p.Glu737=
ENST00000465825.5:n.2216G=
ENST00000480891.5:n.2158G=
ENST00000484122.5:n.3159G=
ENST00000487229.6:n.1875G=
ENST00000584650.5:c.1728G=
NM_001165962.1:c.2209G=	NP_001159434.1:p.Glu737=
NM_018127.6:c.2329G=	NP_060597.4:p.Glu777=
NM_173717.1:c.2326G=	NP_776065.1:p.Glu776=
XM_024450850.1:c.2488G=	XP_024306618.1:p.Glu830=
XM_024450851.1:c.2410G=	XP_024306619.1:p.Glu804=
XM_024450852.1:c.2407G=	XP_024306620.1:p.Glu803=
XM_024450853.1:c.2404G=	XP_024306621.1:p.Glu802=
XM_024450854.1:c.2368G=	XP_024306622.1:p.Glu790=
XM_024450855.1:c.2287G=	XP_024306623.1:p.Glu763=
XM_024450856.1:c.2206G=	XP_024306624.1:p.Glu736=
XM_024450857.1:c.2206G=	XP_024306625.1:p.Glu736=
XM_024450858.1:c.2125G=	XP_024306626.1:p.Glu709=
XM_024450859.1:c.2122G=	XP_024306627.1:p.Glu708=
XM_024450860.1:c.2047G=	XP_024306628.1:p.Glu683=
XM_024450861.1:c.2047G=	XP_024306629.1:p.Glu683=
XM_024450862.1:c.2044G=	XP_024306630.1:p.Glu682=
NM_018127.7:c.2329G= MANE Select	NP_060597.4:p.Glu777=
NM_001165962.2:c.2209G=	NP_001159434.1:p.Glu737=
NM_173717.2:c.2326G=	NP_776065.1:p.Glu776=