Canonical Allele Identifier: CA2248421341

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992846G= , CM000679.2:g.12992846G=	GRCh38
NC_000017.10:g.12896163G= , CM000679.1:g.12896163G=	GRCh37
NC_000017.9:g.12836888G=	NCBI36
NG_015808.1:g.30219C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2453C= MANE Select	ENSP00000337445.4:p.Pro818=
ENST00000338034.8:c.2453C=	ENSP00000337445.4:p.Pro818=
ENST00000395962.6:c.2396C=	ENSP00000379291.1:p.Pro799=
ENST00000426905.7:c.2333C=	ENSP00000405223.3:p.Pro778=
ENST00000465825.5:n.2340C=
ENST00000480891.5:n.2282C=
ENST00000484122.5:n.3283C=
ENST00000487229.6:n.1999C=
ENST00000584650.5:c.1852C=
NM_001165962.1:c.2333C=	NP_001159434.1:p.Pro778=
NM_018127.6:c.2453C=	NP_060597.4:p.Pro818=
NM_173717.1:c.2450C=	NP_776065.1:p.Pro817=
XM_024450850.1:c.2612C=	XP_024306618.1:p.Pro871=
XM_024450851.1:c.2534C=	XP_024306619.1:p.Pro845=
XM_024450852.1:c.2531C=	XP_024306620.1:p.Pro844=
XM_024450853.1:c.2528C=	XP_024306621.1:p.Pro843=
XM_024450854.1:c.2492C=	XP_024306622.1:p.Pro831=
XM_024450855.1:c.2411C=	XP_024306623.1:p.Pro804=
XM_024450856.1:c.2330C=	XP_024306624.1:p.Pro777=
XM_024450857.1:c.2330C=	XP_024306625.1:p.Pro777=
XM_024450858.1:c.2249C=	XP_024306626.1:p.Pro750=
XM_024450859.1:c.2246C=	XP_024306627.1:p.Pro749=
XM_024450860.1:c.2171C=	XP_024306628.1:p.Pro724=
XM_024450861.1:c.2171C=	XP_024306629.1:p.Pro724=
XM_024450862.1:c.2168C=	XP_024306630.1:p.Pro723=
NM_018127.7:c.2453C= MANE Select	NP_060597.4:p.Pro818=
NM_001165962.2:c.2333C=	NP_001159434.1:p.Pro778=
NM_173717.2:c.2450C=	NP_776065.1:p.Pro817=