Canonical Allele Identifier: CA2248421379

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992862C= , CM000679.2:g.12992862C=	GRCh38
NC_000017.10:g.12896179C= , CM000679.1:g.12896179C=	GRCh37
NC_000017.9:g.12836904C=	NCBI36
NG_015808.1:g.30203G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2437G= MANE Select	ENSP00000337445.4:p.Ala813=
ENST00000338034.8:c.2437G=	ENSP00000337445.4:p.Ala813=
ENST00000395962.6:c.2380G=	ENSP00000379291.1:p.Ala794=
ENST00000426905.7:c.2317G=	ENSP00000405223.3:p.Ala773=
ENST00000465825.5:n.2324G=
ENST00000480891.5:n.2266G=
ENST00000484122.5:n.3267G=
ENST00000487229.6:n.1983G=
ENST00000584650.5:c.1836G=
NM_001165962.1:c.2317G=	NP_001159434.1:p.Ala773=
NM_018127.6:c.2437G=	NP_060597.4:p.Ala813=
NM_173717.1:c.2434G=	NP_776065.1:p.Ala812=
XM_024450850.1:c.2596G=	XP_024306618.1:p.Ala866=
XM_024450851.1:c.2518G=	XP_024306619.1:p.Ala840=
XM_024450852.1:c.2515G=	XP_024306620.1:p.Ala839=
XM_024450853.1:c.2512G=	XP_024306621.1:p.Ala838=
XM_024450854.1:c.2476G=	XP_024306622.1:p.Ala826=
XM_024450855.1:c.2395G=	XP_024306623.1:p.Ala799=
XM_024450856.1:c.2314G=	XP_024306624.1:p.Ala772=
XM_024450857.1:c.2314G=	XP_024306625.1:p.Ala772=
XM_024450858.1:c.2233G=	XP_024306626.1:p.Ala745=
XM_024450859.1:c.2230G=	XP_024306627.1:p.Ala744=
XM_024450860.1:c.2155G=	XP_024306628.1:p.Ala719=
XM_024450861.1:c.2155G=	XP_024306629.1:p.Ala719=
XM_024450862.1:c.2152G=	XP_024306630.1:p.Ala718=
NM_018127.7:c.2437G= MANE Select	NP_060597.4:p.Ala813=
NM_001165962.2:c.2317G=	NP_001159434.1:p.Ala773=
NM_173717.2:c.2434G=	NP_776065.1:p.Ala812=