Canonical Allele Identifier: CA2248421719

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992995T= , CM000679.2:g.12992995T=	GRCh38
NC_000017.10:g.12896312T= , CM000679.1:g.12896312T=	GRCh37
NC_000017.9:g.12837037T=	NCBI36
NG_015808.1:g.30070A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2304A= MANE Select	ENSP00000337445.4:p.Lys768=
ENST00000338034.8:c.2304A=	ENSP00000337445.4:p.Lys768=
ENST00000395962.6:c.2247A=	ENSP00000379291.1:p.Lys749=
ENST00000426905.7:c.2184A=	ENSP00000405223.3:p.Lys728=
ENST00000465825.5:n.2191A=
ENST00000480891.5:n.2133A=
ENST00000484122.5:n.3134A=
ENST00000487229.6:n.1850A=
ENST00000584650.5:c.1703A=
NM_001165962.1:c.2184A=	NP_001159434.1:p.Lys728=
NM_018127.6:c.2304A=	NP_060597.4:p.Lys768=
NM_173717.1:c.2301A=	NP_776065.1:p.Lys767=
XM_024450850.1:c.2463A=	XP_024306618.1:p.Lys821=
XM_024450851.1:c.2385A=	XP_024306619.1:p.Lys795=
XM_024450852.1:c.2382A=	XP_024306620.1:p.Lys794=
XM_024450853.1:c.2379A=	XP_024306621.1:p.Lys793=
XM_024450854.1:c.2343A=	XP_024306622.1:p.Lys781=
XM_024450855.1:c.2262A=	XP_024306623.1:p.Lys754=
XM_024450856.1:c.2181A=	XP_024306624.1:p.Lys727=
XM_024450857.1:c.2181A=	XP_024306625.1:p.Lys727=
XM_024450858.1:c.2100A=	XP_024306626.1:p.Lys700=
XM_024450859.1:c.2097A=	XP_024306627.1:p.Lys699=
XM_024450860.1:c.2022A=	XP_024306628.1:p.Lys674=
XM_024450861.1:c.2022A=	XP_024306629.1:p.Lys674=
XM_024450862.1:c.2019A=	XP_024306630.1:p.Lys673=
NM_018127.7:c.2304A= MANE Select	NP_060597.4:p.Lys768=
NM_001165962.2:c.2184A=	NP_001159434.1:p.Lys728=
NM_173717.2:c.2301A=	NP_776065.1:p.Lys767=