Canonical Allele Identifier: CA2248421496

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992910T= , CM000679.2:g.12992910T=	GRCh38
NC_000017.10:g.12896227T= , CM000679.1:g.12896227T=	GRCh37
NC_000017.9:g.12836952T=	NCBI36
NG_015808.1:g.30155A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2389A= MANE Select	ENSP00000337445.4:p.Arg797=
ENST00000338034.8:c.2389A=	ENSP00000337445.4:p.Arg797=
ENST00000395962.6:c.2332A=	ENSP00000379291.1:p.Arg778=
ENST00000426905.7:c.2269A=	ENSP00000405223.3:p.Arg757=
ENST00000465825.5:n.2276A=
ENST00000480891.5:n.2218A=
ENST00000484122.5:n.3219A=
ENST00000487229.6:n.1935A=
ENST00000584650.5:c.1788A=
NM_001165962.1:c.2269A=	NP_001159434.1:p.Arg757=
NM_018127.6:c.2389A=	NP_060597.4:p.Arg797=
NM_173717.1:c.2386A=	NP_776065.1:p.Arg796=
XM_024450850.1:c.2548A=	XP_024306618.1:p.Arg850=
XM_024450851.1:c.2470A=	XP_024306619.1:p.Arg824=
XM_024450852.1:c.2467A=	XP_024306620.1:p.Arg823=
XM_024450853.1:c.2464A=	XP_024306621.1:p.Arg822=
XM_024450854.1:c.2428A=	XP_024306622.1:p.Arg810=
XM_024450855.1:c.2347A=	XP_024306623.1:p.Arg783=
XM_024450856.1:c.2266A=	XP_024306624.1:p.Arg756=
XM_024450857.1:c.2266A=	XP_024306625.1:p.Arg756=
XM_024450858.1:c.2185A=	XP_024306626.1:p.Arg729=
XM_024450859.1:c.2182A=	XP_024306627.1:p.Arg728=
XM_024450860.1:c.2107A=	XP_024306628.1:p.Arg703=
XM_024450861.1:c.2107A=	XP_024306629.1:p.Arg703=
XM_024450862.1:c.2104A=	XP_024306630.1:p.Arg702=
NM_018127.7:c.2389A= MANE Select	NP_060597.4:p.Arg797=
NM_001165962.2:c.2269A=	NP_001159434.1:p.Arg757=
NM_173717.2:c.2386A=	NP_776065.1:p.Arg796=