Canonical Allele Identifier: CA2248421391

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992868T= , CM000679.2:g.12992868T=	GRCh38
NC_000017.10:g.12896185T= , CM000679.1:g.12896185T=	GRCh37
NC_000017.9:g.12836910T=	NCBI36
NG_015808.1:g.30197A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2431A= MANE Select	ENSP00000337445.4:p.Lys811=
ENST00000338034.8:c.2431A=	ENSP00000337445.4:p.Lys811=
ENST00000395962.6:c.2374A=	ENSP00000379291.1:p.Lys792=
ENST00000426905.7:c.2311A=	ENSP00000405223.3:p.Lys771=
ENST00000465825.5:n.2318A=
ENST00000480891.5:n.2260A=
ENST00000484122.5:n.3261A=
ENST00000487229.6:n.1977A=
ENST00000584650.5:c.1830A=
NM_001165962.1:c.2311A=	NP_001159434.1:p.Lys771=
NM_018127.6:c.2431A=	NP_060597.4:p.Lys811=
NM_173717.1:c.2428A=	NP_776065.1:p.Lys810=
XM_024450850.1:c.2590A=	XP_024306618.1:p.Lys864=
XM_024450851.1:c.2512A=	XP_024306619.1:p.Lys838=
XM_024450852.1:c.2509A=	XP_024306620.1:p.Lys837=
XM_024450853.1:c.2506A=	XP_024306621.1:p.Lys836=
XM_024450854.1:c.2470A=	XP_024306622.1:p.Lys824=
XM_024450855.1:c.2389A=	XP_024306623.1:p.Lys797=
XM_024450856.1:c.2308A=	XP_024306624.1:p.Lys770=
XM_024450857.1:c.2308A=	XP_024306625.1:p.Lys770=
XM_024450858.1:c.2227A=	XP_024306626.1:p.Lys743=
XM_024450859.1:c.2224A=	XP_024306627.1:p.Lys742=
XM_024450860.1:c.2149A=	XP_024306628.1:p.Lys717=
XM_024450861.1:c.2149A=	XP_024306629.1:p.Lys717=
XM_024450862.1:c.2146A=	XP_024306630.1:p.Lys716=
NM_018127.7:c.2431A= MANE Select	NP_060597.4:p.Lys811=
NM_001165962.2:c.2311A=	NP_001159434.1:p.Lys771=
NM_173717.2:c.2428A=	NP_776065.1:p.Lys810=