Canonical Allele Identifier: CA2248421306

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992833C= , CM000679.2:g.12992833C=	GRCh38
NC_000017.10:g.12896150C= , CM000679.1:g.12896150C=	GRCh37
NC_000017.9:g.12836875C=	NCBI36
NG_015808.1:g.30232G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2466G= MANE Select	ENSP00000337445.4:p.Lys822=
ENST00000338034.8:c.2466G=	ENSP00000337445.4:p.Lys822=
ENST00000395962.6:c.2409G=	ENSP00000379291.1:p.Lys803=
ENST00000426905.7:c.2346G=	ENSP00000405223.3:p.Lys782=
ENST00000465825.5:n.2353G=
ENST00000480891.5:n.2295G=
ENST00000484122.5:n.3296G=
ENST00000487229.6:n.2012G=
ENST00000584650.5:c.1865G=
NM_001165962.1:c.2346G=	NP_001159434.1:p.Lys782=
NM_018127.6:c.2466G=	NP_060597.4:p.Lys822=
NM_173717.1:c.2463G=	NP_776065.1:p.Lys821=
XM_024450850.1:c.2625G=	XP_024306618.1:p.Lys875=
XM_024450851.1:c.2547G=	XP_024306619.1:p.Lys849=
XM_024450852.1:c.2544G=	XP_024306620.1:p.Lys848=
XM_024450853.1:c.2541G=	XP_024306621.1:p.Lys847=
XM_024450854.1:c.2505G=	XP_024306622.1:p.Lys835=
XM_024450855.1:c.2424G=	XP_024306623.1:p.Lys808=
XM_024450856.1:c.2343G=	XP_024306624.1:p.Lys781=
XM_024450857.1:c.2343G=	XP_024306625.1:p.Lys781=
XM_024450858.1:c.2262G=	XP_024306626.1:p.Lys754=
XM_024450859.1:c.2259G=	XP_024306627.1:p.Lys753=
XM_024450860.1:c.2184G=	XP_024306628.1:p.Lys728=
XM_024450861.1:c.2184G=	XP_024306629.1:p.Lys728=
XM_024450862.1:c.2181G=	XP_024306630.1:p.Lys727=
NM_018127.7:c.2466G= MANE Select	NP_060597.4:p.Lys822=
NM_001165962.2:c.2346G=	NP_001159434.1:p.Lys782=
NM_173717.2:c.2463G=	NP_776065.1:p.Lys821=