Canonical Allele Identifier: CA2248421419

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992882C= , CM000679.2:g.12992882C=	GRCh38
NC_000017.10:g.12896199C= , CM000679.1:g.12896199C=	GRCh37
NC_000017.9:g.12836924C=	NCBI36
NG_015808.1:g.30183G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2417G= MANE Select	ENSP00000337445.4:p.Gly806=
ENST00000338034.8:c.2417G=	ENSP00000337445.4:p.Gly806=
ENST00000395962.6:c.2360G=	ENSP00000379291.1:p.Gly787=
ENST00000426905.7:c.2297G=	ENSP00000405223.3:p.Gly766=
ENST00000465825.5:n.2304G=
ENST00000480891.5:n.2246G=
ENST00000484122.5:n.3247G=
ENST00000487229.6:n.1963G=
ENST00000584650.5:c.1816G=
NM_001165962.1:c.2297G=	NP_001159434.1:p.Gly766=
NM_018127.6:c.2417G=	NP_060597.4:p.Gly806=
NM_173717.1:c.2414G=	NP_776065.1:p.Gly805=
XM_024450850.1:c.2576G=	XP_024306618.1:p.Gly859=
XM_024450851.1:c.2498G=	XP_024306619.1:p.Gly833=
XM_024450852.1:c.2495G=	XP_024306620.1:p.Gly832=
XM_024450853.1:c.2492G=	XP_024306621.1:p.Gly831=
XM_024450854.1:c.2456G=	XP_024306622.1:p.Gly819=
XM_024450855.1:c.2375G=	XP_024306623.1:p.Gly792=
XM_024450856.1:c.2294G=	XP_024306624.1:p.Gly765=
XM_024450857.1:c.2294G=	XP_024306625.1:p.Gly765=
XM_024450858.1:c.2213G=	XP_024306626.1:p.Gly738=
XM_024450859.1:c.2210G=	XP_024306627.1:p.Gly737=
XM_024450860.1:c.2135G=	XP_024306628.1:p.Gly712=
XM_024450861.1:c.2135G=	XP_024306629.1:p.Gly712=
XM_024450862.1:c.2132G=	XP_024306630.1:p.Gly711=
NM_018127.7:c.2417G= MANE Select	NP_060597.4:p.Gly806=
NM_001165962.2:c.2297G=	NP_001159434.1:p.Gly766=
NM_173717.2:c.2414G=	NP_776065.1:p.Gly805=