Canonical Allele Identifier: CA2248421579

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992943C= , CM000679.2:g.12992943C=	GRCh38
NC_000017.10:g.12896260C= , CM000679.1:g.12896260C=	GRCh37
NC_000017.9:g.12836985C=	NCBI36
NG_015808.1:g.30122G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2356G= MANE Select	ENSP00000337445.4:p.Glu786=
ENST00000338034.8:c.2356G=	ENSP00000337445.4:p.Glu786=
ENST00000395962.6:c.2299G=	ENSP00000379291.1:p.Glu767=
ENST00000426905.7:c.2236G=	ENSP00000405223.3:p.Glu746=
ENST00000465825.5:n.2243G=
ENST00000480891.5:n.2185G=
ENST00000484122.5:n.3186G=
ENST00000487229.6:n.1902G=
ENST00000584650.5:c.1755G=
NM_001165962.1:c.2236G=	NP_001159434.1:p.Glu746=
NM_018127.6:c.2356G=	NP_060597.4:p.Glu786=
NM_173717.1:c.2353G=	NP_776065.1:p.Glu785=
XM_024450850.1:c.2515G=	XP_024306618.1:p.Glu839=
XM_024450851.1:c.2437G=	XP_024306619.1:p.Glu813=
XM_024450852.1:c.2434G=	XP_024306620.1:p.Glu812=
XM_024450853.1:c.2431G=	XP_024306621.1:p.Glu811=
XM_024450854.1:c.2395G=	XP_024306622.1:p.Glu799=
XM_024450855.1:c.2314G=	XP_024306623.1:p.Glu772=
XM_024450856.1:c.2233G=	XP_024306624.1:p.Glu745=
XM_024450857.1:c.2233G=	XP_024306625.1:p.Glu745=
XM_024450858.1:c.2152G=	XP_024306626.1:p.Glu718=
XM_024450859.1:c.2149G=	XP_024306627.1:p.Glu717=
XM_024450860.1:c.2074G=	XP_024306628.1:p.Glu692=
XM_024450861.1:c.2074G=	XP_024306629.1:p.Glu692=
XM_024450862.1:c.2071G=	XP_024306630.1:p.Glu691=
NM_018127.7:c.2356G= MANE Select	NP_060597.4:p.Glu786=
NM_001165962.2:c.2236G=	NP_001159434.1:p.Glu746=
NM_173717.2:c.2353G=	NP_776065.1:p.Glu785=