Canonical Allele Identifier: CA2248421469

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992900G= , CM000679.2:g.12992900G=	GRCh38
NC_000017.10:g.12896217G= , CM000679.1:g.12896217G=	GRCh37
NC_000017.9:g.12836942G=	NCBI36
NG_015808.1:g.30165C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2399C= MANE Select	ENSP00000337445.4:p.Ala800=
ENST00000338034.8:c.2399C=	ENSP00000337445.4:p.Ala800=
ENST00000395962.6:c.2342C=	ENSP00000379291.1:p.Ala781=
ENST00000426905.7:c.2279C=	ENSP00000405223.3:p.Ala760=
ENST00000465825.5:n.2286C=
ENST00000480891.5:n.2228C=
ENST00000484122.5:n.3229C=
ENST00000487229.6:n.1945C=
ENST00000584650.5:c.1798C=
NM_001165962.1:c.2279C=	NP_001159434.1:p.Ala760=
NM_018127.6:c.2399C=	NP_060597.4:p.Ala800=
NM_173717.1:c.2396C=	NP_776065.1:p.Ala799=
XM_024450850.1:c.2558C=	XP_024306618.1:p.Ala853=
XM_024450851.1:c.2480C=	XP_024306619.1:p.Ala827=
XM_024450852.1:c.2477C=	XP_024306620.1:p.Ala826=
XM_024450853.1:c.2474C=	XP_024306621.1:p.Ala825=
XM_024450854.1:c.2438C=	XP_024306622.1:p.Ala813=
XM_024450855.1:c.2357C=	XP_024306623.1:p.Ala786=
XM_024450856.1:c.2276C=	XP_024306624.1:p.Ala759=
XM_024450857.1:c.2276C=	XP_024306625.1:p.Ala759=
XM_024450858.1:c.2195C=	XP_024306626.1:p.Ala732=
XM_024450859.1:c.2192C=	XP_024306627.1:p.Ala731=
XM_024450860.1:c.2117C=	XP_024306628.1:p.Ala706=
XM_024450861.1:c.2117C=	XP_024306629.1:p.Ala706=
XM_024450862.1:c.2114C=	XP_024306630.1:p.Ala705=
NM_018127.7:c.2399C= MANE Select	NP_060597.4:p.Ala800=
NM_001165962.2:c.2279C=	NP_001159434.1:p.Ala760=
NM_173717.2:c.2396C=	NP_776065.1:p.Ala799=