Canonical Allele Identifier: CA2248421698

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992980G= , CM000679.2:g.12992980G=	GRCh38
NC_000017.10:g.12896297G= , CM000679.1:g.12896297G=	GRCh37
NC_000017.9:g.12837022G=	NCBI36
NG_015808.1:g.30085C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2319C= MANE Select	ENSP00000337445.4:p.Gly773=
ENST00000338034.8:c.2319C=	ENSP00000337445.4:p.Gly773=
ENST00000395962.6:c.2262C=	ENSP00000379291.1:p.Gly754=
ENST00000426905.7:c.2199C=	ENSP00000405223.3:p.Gly733=
ENST00000465825.5:n.2206C=
ENST00000480891.5:n.2148C=
ENST00000484122.5:n.3149C=
ENST00000487229.6:n.1865C=
ENST00000584650.5:c.1718C=
NM_001165962.1:c.2199C=	NP_001159434.1:p.Gly733=
NM_018127.6:c.2319C=	NP_060597.4:p.Gly773=
NM_173717.1:c.2316C=	NP_776065.1:p.Gly772=
XM_024450850.1:c.2478C=	XP_024306618.1:p.Gly826=
XM_024450851.1:c.2400C=	XP_024306619.1:p.Gly800=
XM_024450852.1:c.2397C=	XP_024306620.1:p.Gly799=
XM_024450853.1:c.2394C=	XP_024306621.1:p.Gly798=
XM_024450854.1:c.2358C=	XP_024306622.1:p.Gly786=
XM_024450855.1:c.2277C=	XP_024306623.1:p.Gly759=
XM_024450856.1:c.2196C=	XP_024306624.1:p.Gly732=
XM_024450857.1:c.2196C=	XP_024306625.1:p.Gly732=
XM_024450858.1:c.2115C=	XP_024306626.1:p.Gly705=
XM_024450859.1:c.2112C=	XP_024306627.1:p.Gly704=
XM_024450860.1:c.2037C=	XP_024306628.1:p.Gly679=
XM_024450861.1:c.2037C=	XP_024306629.1:p.Gly679=
XM_024450862.1:c.2034C=	XP_024306630.1:p.Gly678=
NM_018127.7:c.2319C= MANE Select	NP_060597.4:p.Gly773=
NM_001165962.2:c.2199C=	NP_001159434.1:p.Gly733=
NM_173717.2:c.2316C=	NP_776065.1:p.Gly772=