Canonical Allele Identifier: CA2248424055

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12995006T= , CM000679.2:g.12995006T=	GRCh38
NC_000017.10:g.12898323T= , CM000679.1:g.12898323T=	GRCh37
NC_000017.9:g.12839048T=	NCBI36
NG_015808.1:g.28059A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1865A= MANE Select	ENSP00000337445.4:p.Glu622=
ENST00000338034.8:c.1865A=	ENSP00000337445.4:p.Glu622=
ENST00000395962.6:c.1808A=	ENSP00000379291.1:p.Glu603=
ENST00000426905.7:c.1745A=	ENSP00000405223.3:p.Glu582=
ENST00000465825.5:n.1752A=
ENST00000480891.5:n.1694A=
ENST00000484122.5:n.2695A=
ENST00000487229.6:n.1411A=
ENST00000491478.5:n.442A=
ENST00000584650.5:c.1264A=
NM_001165962.1:c.1745A=	NP_001159434.1:p.Glu582=
NM_018127.6:c.1865A=	NP_060597.4:p.Glu622=
NM_173717.1:c.1862A=	NP_776065.1:p.Glu621=
XM_024450850.1:c.1946A=	XP_024306618.1:p.Glu649=
XM_024450851.1:c.1946A=	XP_024306619.1:p.Glu649=
XM_024450852.1:c.1865A=	XP_024306620.1:p.Glu622=
XM_024450853.1:c.1862A=	XP_024306621.1:p.Glu621=
XM_024450854.1:c.1826A=	XP_024306622.1:p.Glu609=
XM_024450855.1:c.1745A=	XP_024306623.1:p.Glu582=
XM_024450856.1:c.1664A=	XP_024306624.1:p.Glu555=
XM_024450857.1:c.1664A=	XP_024306625.1:p.Glu555=
XM_024450858.1:c.1583A=	XP_024306626.1:p.Glu528=
XM_024450859.1:c.1580A=	XP_024306627.1:p.Glu527=
XM_024450860.1:c.1583A=	XP_024306628.1:p.Glu528=
XM_024450861.1:c.1583A=	XP_024306629.1:p.Glu528=
XM_024450862.1:c.1580A=	XP_024306630.1:p.Glu527=
NM_018127.7:c.1865A= MANE Select	NP_060597.4:p.Glu622=
NM_001165962.2:c.1745A=	NP_001159434.1:p.Glu582=
NM_173717.2:c.1862A=	NP_776065.1:p.Glu621=