Canonical Allele Identifier: CA2248421336

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992844G= , CM000679.2:g.12992844G=	GRCh38
NC_000017.10:g.12896161G= , CM000679.1:g.12896161G=	GRCh37
NC_000017.9:g.12836886G=	NCBI36
NG_015808.1:g.30221C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2455C= MANE Select	ENSP00000337445.4:p.Gln819=
ENST00000338034.8:c.2455C=	ENSP00000337445.4:p.Gln819=
ENST00000395962.6:c.2398C=	ENSP00000379291.1:p.Gln800=
ENST00000426905.7:c.2335C=	ENSP00000405223.3:p.Gln779=
ENST00000465825.5:n.2342C=
ENST00000480891.5:n.2284C=
ENST00000484122.5:n.3285C=
ENST00000487229.6:n.2001C=
ENST00000584650.5:c.1854C=
NM_001165962.1:c.2335C=	NP_001159434.1:p.Gln779=
NM_018127.6:c.2455C=	NP_060597.4:p.Gln819=
NM_173717.1:c.2452C=	NP_776065.1:p.Gln818=
XM_024450850.1:c.2614C=	XP_024306618.1:p.Gln872=
XM_024450851.1:c.2536C=	XP_024306619.1:p.Gln846=
XM_024450852.1:c.2533C=	XP_024306620.1:p.Gln845=
XM_024450853.1:c.2530C=	XP_024306621.1:p.Gln844=
XM_024450854.1:c.2494C=	XP_024306622.1:p.Gln832=
XM_024450855.1:c.2413C=	XP_024306623.1:p.Gln805=
XM_024450856.1:c.2332C=	XP_024306624.1:p.Gln778=
XM_024450857.1:c.2332C=	XP_024306625.1:p.Gln778=
XM_024450858.1:c.2251C=	XP_024306626.1:p.Gln751=
XM_024450859.1:c.2248C=	XP_024306627.1:p.Gln750=
XM_024450860.1:c.2173C=	XP_024306628.1:p.Gln725=
XM_024450861.1:c.2173C=	XP_024306629.1:p.Gln725=
XM_024450862.1:c.2170C=	XP_024306630.1:p.Gln724=
NM_018127.7:c.2455C= MANE Select	NP_060597.4:p.Gln819=
NM_001165962.2:c.2335C=	NP_001159434.1:p.Gln779=
NM_173717.2:c.2452C=	NP_776065.1:p.Gln818=