Canonical Allele Identifier: CA2248421682

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992975A= , CM000679.2:g.12992975A=	GRCh38
NC_000017.10:g.12896292A= , CM000679.1:g.12896292A=	GRCh37
NC_000017.9:g.12837017A=	NCBI36
NG_015808.1:g.30090T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2324T= MANE Select	ENSP00000337445.4:p.Ile775=
ENST00000338034.8:c.2324T=	ENSP00000337445.4:p.Ile775=
ENST00000395962.6:c.2267T=	ENSP00000379291.1:p.Ile756=
ENST00000426905.7:c.2204T=	ENSP00000405223.3:p.Ile735=
ENST00000465825.5:n.2211T=
ENST00000480891.5:n.2153T=
ENST00000484122.5:n.3154T=
ENST00000487229.6:n.1870T=
ENST00000584650.5:c.1723T=
NM_001165962.1:c.2204T=	NP_001159434.1:p.Ile735=
NM_018127.6:c.2324T=	NP_060597.4:p.Ile775=
NM_173717.1:c.2321T=	NP_776065.1:p.Ile774=
XM_024450850.1:c.2483T=	XP_024306618.1:p.Ile828=
XM_024450851.1:c.2405T=	XP_024306619.1:p.Ile802=
XM_024450852.1:c.2402T=	XP_024306620.1:p.Ile801=
XM_024450853.1:c.2399T=	XP_024306621.1:p.Ile800=
XM_024450854.1:c.2363T=	XP_024306622.1:p.Ile788=
XM_024450855.1:c.2282T=	XP_024306623.1:p.Ile761=
XM_024450856.1:c.2201T=	XP_024306624.1:p.Ile734=
XM_024450857.1:c.2201T=	XP_024306625.1:p.Ile734=
XM_024450858.1:c.2120T=	XP_024306626.1:p.Ile707=
XM_024450859.1:c.2117T=	XP_024306627.1:p.Ile706=
XM_024450860.1:c.2042T=	XP_024306628.1:p.Ile681=
XM_024450861.1:c.2042T=	XP_024306629.1:p.Ile681=
XM_024450862.1:c.2039T=	XP_024306630.1:p.Ile680=
NM_018127.7:c.2324T= MANE Select	NP_060597.4:p.Ile775=
NM_001165962.2:c.2204T=	NP_001159434.1:p.Ile735=
NM_173717.2:c.2321T=	NP_776065.1:p.Ile774=