Canonical Allele Identifier: CA2248421780

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993028A= , CM000679.2:g.12993028A=	GRCh38
NC_000017.10:g.12896345A= , CM000679.1:g.12896345A=	GRCh37
NC_000017.9:g.12837070A=	NCBI36
NG_015808.1:g.30037T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2271T= MANE Select	ENSP00000337445.4:p.Phe757=
ENST00000338034.8:c.2271T=	ENSP00000337445.4:p.Phe757=
ENST00000395962.6:c.2214T=	ENSP00000379291.1:p.Phe738=
ENST00000426905.7:c.2151T=	ENSP00000405223.3:p.Phe717=
ENST00000465825.5:n.2158T=
ENST00000480891.5:n.2100T=
ENST00000484122.5:n.3101T=
ENST00000487229.6:n.1817T=
ENST00000584650.5:c.1670T=
NM_001165962.1:c.2151T=	NP_001159434.1:p.Phe717=
NM_018127.6:c.2271T=	NP_060597.4:p.Phe757=
NM_173717.1:c.2268T=	NP_776065.1:p.Phe756=
XM_024450850.1:c.2430T=	XP_024306618.1:p.Phe810=
XM_024450851.1:c.2352T=	XP_024306619.1:p.Phe784=
XM_024450852.1:c.2349T=	XP_024306620.1:p.Phe783=
XM_024450853.1:c.2346T=	XP_024306621.1:p.Phe782=
XM_024450854.1:c.2310T=	XP_024306622.1:p.Phe770=
XM_024450855.1:c.2229T=	XP_024306623.1:p.Phe743=
XM_024450856.1:c.2148T=	XP_024306624.1:p.Phe716=
XM_024450857.1:c.2148T=	XP_024306625.1:p.Phe716=
XM_024450858.1:c.2067T=	XP_024306626.1:p.Phe689=
XM_024450859.1:c.2064T=	XP_024306627.1:p.Phe688=
XM_024450860.1:c.1989T=	XP_024306628.1:p.Phe663=
XM_024450861.1:c.1989T=	XP_024306629.1:p.Phe663=
XM_024450862.1:c.1986T=	XP_024306630.1:p.Phe662=
NM_018127.7:c.2271T= MANE Select	NP_060597.4:p.Phe757=
NM_001165962.2:c.2151T=	NP_001159434.1:p.Phe717=
NM_173717.2:c.2268T=	NP_776065.1:p.Phe756=