Canonical Allele Identifier: CA2248421805

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993045C= , CM000679.2:g.12993045C=	GRCh38
NC_000017.10:g.12896362C= , CM000679.1:g.12896362C=	GRCh37
NC_000017.9:g.12837087C=	NCBI36
NG_015808.1:g.30020G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2254G= MANE Select	ENSP00000337445.4:p.Val752=
ENST00000338034.8:c.2254G=	ENSP00000337445.4:p.Val752=
ENST00000395962.6:c.2197G=	ENSP00000379291.1:p.Val733=
ENST00000426905.7:c.2134G=	ENSP00000405223.3:p.Val712=
ENST00000465825.5:n.2141G=
ENST00000480891.5:n.2083G=
ENST00000484122.5:n.3084G=
ENST00000487229.6:n.1800G=
ENST00000584650.5:c.1653G=
NM_001165962.1:c.2134G=	NP_001159434.1:p.Val712=
NM_018127.6:c.2254G=	NP_060597.4:p.Val752=
NM_173717.1:c.2251G=	NP_776065.1:p.Val751=
XM_024450850.1:c.2413G=	XP_024306618.1:p.Val805=
XM_024450851.1:c.2335G=	XP_024306619.1:p.Val779=
XM_024450852.1:c.2332G=	XP_024306620.1:p.Val778=
XM_024450853.1:c.2329G=	XP_024306621.1:p.Val777=
XM_024450854.1:c.2293G=	XP_024306622.1:p.Val765=
XM_024450855.1:c.2212G=	XP_024306623.1:p.Val738=
XM_024450856.1:c.2131G=	XP_024306624.1:p.Val711=
XM_024450857.1:c.2131G=	XP_024306625.1:p.Val711=
XM_024450858.1:c.2050G=	XP_024306626.1:p.Val684=
XM_024450859.1:c.2047G=	XP_024306627.1:p.Val683=
XM_024450860.1:c.1972G=	XP_024306628.1:p.Val658=
XM_024450861.1:c.1972G=	XP_024306629.1:p.Val658=
XM_024450862.1:c.1969G=	XP_024306630.1:p.Val657=
NM_018127.7:c.2254G= MANE Select	NP_060597.4:p.Val752=
NM_001165962.2:c.2134G=	NP_001159434.1:p.Val712=
NM_173717.2:c.2251G=	NP_776065.1:p.Val751=