Canonical Allele Identifier: CA2248421476

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992902C= , CM000679.2:g.12992902C=	GRCh38
NC_000017.10:g.12896219C= , CM000679.1:g.12896219C=	GRCh37
NC_000017.9:g.12836944C=	NCBI36
NG_015808.1:g.30163G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2397G= MANE Select	ENSP00000337445.4:p.Leu799=
ENST00000338034.8:c.2397G=	ENSP00000337445.4:p.Leu799=
ENST00000395962.6:c.2340G=	ENSP00000379291.1:p.Leu780=
ENST00000426905.7:c.2277G=	ENSP00000405223.3:p.Leu759=
ENST00000465825.5:n.2284G=
ENST00000480891.5:n.2226G=
ENST00000484122.5:n.3227G=
ENST00000487229.6:n.1943G=
ENST00000584650.5:c.1796G=
NM_001165962.1:c.2277G=	NP_001159434.1:p.Leu759=
NM_018127.6:c.2397G=	NP_060597.4:p.Leu799=
NM_173717.1:c.2394G=	NP_776065.1:p.Leu798=
XM_024450850.1:c.2556G=	XP_024306618.1:p.Leu852=
XM_024450851.1:c.2478G=	XP_024306619.1:p.Leu826=
XM_024450852.1:c.2475G=	XP_024306620.1:p.Leu825=
XM_024450853.1:c.2472G=	XP_024306621.1:p.Leu824=
XM_024450854.1:c.2436G=	XP_024306622.1:p.Leu812=
XM_024450855.1:c.2355G=	XP_024306623.1:p.Leu785=
XM_024450856.1:c.2274G=	XP_024306624.1:p.Leu758=
XM_024450857.1:c.2274G=	XP_024306625.1:p.Leu758=
XM_024450858.1:c.2193G=	XP_024306626.1:p.Leu731=
XM_024450859.1:c.2190G=	XP_024306627.1:p.Leu730=
XM_024450860.1:c.2115G=	XP_024306628.1:p.Leu705=
XM_024450861.1:c.2115G=	XP_024306629.1:p.Leu705=
XM_024450862.1:c.2112G=	XP_024306630.1:p.Leu704=
NM_018127.7:c.2397G= MANE Select	NP_060597.4:p.Leu799=
NM_001165962.2:c.2277G=	NP_001159434.1:p.Leu759=
NM_173717.2:c.2394G=	NP_776065.1:p.Leu798=