Canonical Allele Identifier: CA2248421619

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992953C= , CM000679.2:g.12992953C=	GRCh38
NC_000017.10:g.12896270C= , CM000679.1:g.12896270C=	GRCh37
NC_000017.9:g.12836995C=	NCBI36
NG_015808.1:g.30112G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2346G= MANE Select	ENSP00000337445.4:p.Arg782=
ENST00000338034.8:c.2346G=	ENSP00000337445.4:p.Arg782=
ENST00000395962.6:c.2289G=	ENSP00000379291.1:p.Arg763=
ENST00000426905.7:c.2226G=	ENSP00000405223.3:p.Arg742=
ENST00000465825.5:n.2233G=
ENST00000480891.5:n.2175G=
ENST00000484122.5:n.3176G=
ENST00000487229.6:n.1892G=
ENST00000584650.5:c.1745G=
NM_001165962.1:c.2226G=	NP_001159434.1:p.Arg742=
NM_018127.6:c.2346G=	NP_060597.4:p.Arg782=
NM_173717.1:c.2343G=	NP_776065.1:p.Arg781=
XM_024450850.1:c.2505G=	XP_024306618.1:p.Arg835=
XM_024450851.1:c.2427G=	XP_024306619.1:p.Arg809=
XM_024450852.1:c.2424G=	XP_024306620.1:p.Arg808=
XM_024450853.1:c.2421G=	XP_024306621.1:p.Arg807=
XM_024450854.1:c.2385G=	XP_024306622.1:p.Arg795=
XM_024450855.1:c.2304G=	XP_024306623.1:p.Arg768=
XM_024450856.1:c.2223G=	XP_024306624.1:p.Arg741=
XM_024450857.1:c.2223G=	XP_024306625.1:p.Arg741=
XM_024450858.1:c.2142G=	XP_024306626.1:p.Arg714=
XM_024450859.1:c.2139G=	XP_024306627.1:p.Arg713=
XM_024450860.1:c.2064G=	XP_024306628.1:p.Arg688=
XM_024450861.1:c.2064G=	XP_024306629.1:p.Arg688=
XM_024450862.1:c.2061G=	XP_024306630.1:p.Arg687=
NM_018127.7:c.2346G= MANE Select	NP_060597.4:p.Arg782=
NM_001165962.2:c.2226G=	NP_001159434.1:p.Arg742=
NM_173717.2:c.2343G=	NP_776065.1:p.Arg781=