Canonical Allele Identifier: CA2248421492

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992908C= , CM000679.2:g.12992908C=	GRCh38
NC_000017.10:g.12896225C= , CM000679.1:g.12896225C=	GRCh37
NC_000017.9:g.12836950C=	NCBI36
NG_015808.1:g.30157G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2391G= MANE Select	ENSP00000337445.4:p.Arg797=
ENST00000338034.8:c.2391G=	ENSP00000337445.4:p.Arg797=
ENST00000395962.6:c.2334G=	ENSP00000379291.1:p.Arg778=
ENST00000426905.7:c.2271G=	ENSP00000405223.3:p.Arg757=
ENST00000465825.5:n.2278G=
ENST00000480891.5:n.2220G=
ENST00000484122.5:n.3221G=
ENST00000487229.6:n.1937G=
ENST00000584650.5:c.1790G=
NM_001165962.1:c.2271G=	NP_001159434.1:p.Arg757=
NM_018127.6:c.2391G=	NP_060597.4:p.Arg797=
NM_173717.1:c.2388G=	NP_776065.1:p.Arg796=
XM_024450850.1:c.2550G=	XP_024306618.1:p.Arg850=
XM_024450851.1:c.2472G=	XP_024306619.1:p.Arg824=
XM_024450852.1:c.2469G=	XP_024306620.1:p.Arg823=
XM_024450853.1:c.2466G=	XP_024306621.1:p.Arg822=
XM_024450854.1:c.2430G=	XP_024306622.1:p.Arg810=
XM_024450855.1:c.2349G=	XP_024306623.1:p.Arg783=
XM_024450856.1:c.2268G=	XP_024306624.1:p.Arg756=
XM_024450857.1:c.2268G=	XP_024306625.1:p.Arg756=
XM_024450858.1:c.2187G=	XP_024306626.1:p.Arg729=
XM_024450859.1:c.2184G=	XP_024306627.1:p.Arg728=
XM_024450860.1:c.2109G=	XP_024306628.1:p.Arg703=
XM_024450861.1:c.2109G=	XP_024306629.1:p.Arg703=
XM_024450862.1:c.2106G=	XP_024306630.1:p.Arg702=
NM_018127.7:c.2391G= MANE Select	NP_060597.4:p.Arg797=
NM_001165962.2:c.2271G=	NP_001159434.1:p.Arg757=
NM_173717.2:c.2388G=	NP_776065.1:p.Arg796=