Canonical Allele Identifier: CA2248421376

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992861G= , CM000679.2:g.12992861G=	GRCh38
NC_000017.10:g.12896178G= , CM000679.1:g.12896178G=	GRCh37
NC_000017.9:g.12836903G=	NCBI36
NG_015808.1:g.30204C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2438C= MANE Select	ENSP00000337445.4:p.Ala813=
ENST00000338034.8:c.2438C=	ENSP00000337445.4:p.Ala813=
ENST00000395962.6:c.2381C=	ENSP00000379291.1:p.Ala794=
ENST00000426905.7:c.2318C=	ENSP00000405223.3:p.Ala773=
ENST00000465825.5:n.2325C=
ENST00000480891.5:n.2267C=
ENST00000484122.5:n.3268C=
ENST00000487229.6:n.1984C=
ENST00000584650.5:c.1837C=
NM_001165962.1:c.2318C=	NP_001159434.1:p.Ala773=
NM_018127.6:c.2438C=	NP_060597.4:p.Ala813=
NM_173717.1:c.2435C=	NP_776065.1:p.Ala812=
XM_024450850.1:c.2597C=	XP_024306618.1:p.Ala866=
XM_024450851.1:c.2519C=	XP_024306619.1:p.Ala840=
XM_024450852.1:c.2516C=	XP_024306620.1:p.Ala839=
XM_024450853.1:c.2513C=	XP_024306621.1:p.Ala838=
XM_024450854.1:c.2477C=	XP_024306622.1:p.Ala826=
XM_024450855.1:c.2396C=	XP_024306623.1:p.Ala799=
XM_024450856.1:c.2315C=	XP_024306624.1:p.Ala772=
XM_024450857.1:c.2315C=	XP_024306625.1:p.Ala772=
XM_024450858.1:c.2234C=	XP_024306626.1:p.Ala745=
XM_024450859.1:c.2231C=	XP_024306627.1:p.Ala744=
XM_024450860.1:c.2156C=	XP_024306628.1:p.Ala719=
XM_024450861.1:c.2156C=	XP_024306629.1:p.Ala719=
XM_024450862.1:c.2153C=	XP_024306630.1:p.Ala718=
NM_018127.7:c.2438C= MANE Select	NP_060597.4:p.Ala813=
NM_001165962.2:c.2318C=	NP_001159434.1:p.Ala773=
NM_173717.2:c.2435C=	NP_776065.1:p.Ala812=