Canonical Allele Identifier: CA2248392639

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.13002311G= , CM000679.2:g.13002311G=	GRCh38
NC_000017.10:g.12905628G= , CM000679.1:g.12905628G=	GRCh37
NC_000017.9:g.12846353G=	NCBI36
NG_015808.1:g.20754C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.1267C= MANE Select	ENSP00000337445.4:p.Leu423=
ENST00000338034.8:c.1267C=	ENSP00000337445.4:p.Leu423=
ENST00000395962.6:c.1210C=	ENSP00000379291.1:p.Leu404=
ENST00000426905.7:c.1147C=	ENSP00000405223.3:p.Leu383=
ENST00000446899.5:c.605C=
ENST00000476042.1:c.293C=
ENST00000480891.5:n.1096C=
ENST00000484122.5:n.1529C=
ENST00000487229.6:n.813C=
ENST00000492559.5:n.74C=
ENST00000578104.1:n.577C=
ENST00000578991.5:n.334C=
ENST00000584650.5:c.666C=
NM_001165962.1:c.1147C=	NP_001159434.1:p.Leu383=
NM_018127.6:c.1267C=	NP_060597.4:p.Leu423=
NM_173717.1:c.1264C=	NP_776065.1:p.Leu422=
XM_024450850.1:c.1348C=	XP_024306618.1:p.Leu450=
XM_024450851.1:c.1348C=	XP_024306619.1:p.Leu450=
XM_024450852.1:c.1267C=	XP_024306620.1:p.Leu423=
XM_024450853.1:c.1264C=	XP_024306621.1:p.Leu422=
XM_024450854.1:c.1228C=	XP_024306622.1:p.Leu410=
XM_024450855.1:c.1147C=	XP_024306623.1:p.Leu383=
XM_024450856.1:c.1066C=	XP_024306624.1:p.Leu356=
XM_024450857.1:c.1066C=	XP_024306625.1:p.Leu356=
XM_024450858.1:c.985C=	XP_024306626.1:p.Leu329=
XM_024450859.1:c.982C=	XP_024306627.1:p.Leu328=
XM_024450860.1:c.985C=	XP_024306628.1:p.Leu329=
XM_024450861.1:c.985C=	XP_024306629.1:p.Leu329=
XM_024450862.1:c.982C=	XP_024306630.1:p.Leu328=
NM_018127.7:c.1267C= MANE Select	NP_060597.4:p.Leu423=
NM_001165962.2:c.1147C=	NP_001159434.1:p.Leu383=
NM_173717.2:c.1264C=	NP_776065.1:p.Leu422=