Canonical Allele Identifier: CA2248421726

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993003G= , CM000679.2:g.12993003G=	GRCh38
NC_000017.10:g.12896320G= , CM000679.1:g.12896320G=	GRCh37
NC_000017.9:g.12837045G=	NCBI36
NG_015808.1:g.30062C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2296C= MANE Select	ENSP00000337445.4:p.Pro766=
ENST00000338034.8:c.2296C=	ENSP00000337445.4:p.Pro766=
ENST00000395962.6:c.2239C=	ENSP00000379291.1:p.Pro747=
ENST00000426905.7:c.2176C=	ENSP00000405223.3:p.Pro726=
ENST00000465825.5:n.2183C=
ENST00000480891.5:n.2125C=
ENST00000484122.5:n.3126C=
ENST00000487229.6:n.1842C=
ENST00000584650.5:c.1695C=
NM_001165962.1:c.2176C=	NP_001159434.1:p.Pro726=
NM_018127.6:c.2296C=	NP_060597.4:p.Pro766=
NM_173717.1:c.2293C=	NP_776065.1:p.Pro765=
XM_024450850.1:c.2455C=	XP_024306618.1:p.Pro819=
XM_024450851.1:c.2377C=	XP_024306619.1:p.Pro793=
XM_024450852.1:c.2374C=	XP_024306620.1:p.Pro792=
XM_024450853.1:c.2371C=	XP_024306621.1:p.Pro791=
XM_024450854.1:c.2335C=	XP_024306622.1:p.Pro779=
XM_024450855.1:c.2254C=	XP_024306623.1:p.Pro752=
XM_024450856.1:c.2173C=	XP_024306624.1:p.Pro725=
XM_024450857.1:c.2173C=	XP_024306625.1:p.Pro725=
XM_024450858.1:c.2092C=	XP_024306626.1:p.Pro698=
XM_024450859.1:c.2089C=	XP_024306627.1:p.Pro697=
XM_024450860.1:c.2014C=	XP_024306628.1:p.Pro672=
XM_024450861.1:c.2014C=	XP_024306629.1:p.Pro672=
XM_024450862.1:c.2011C=	XP_024306630.1:p.Pro671=
NM_018127.7:c.2296C= MANE Select	NP_060597.4:p.Pro766=
NM_001165962.2:c.2176C=	NP_001159434.1:p.Pro726=
NM_173717.2:c.2293C=	NP_776065.1:p.Pro765=