Canonical Allele Identifier: CA2248421472

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992901C= , CM000679.2:g.12992901C=	GRCh38
NC_000017.10:g.12896218C= , CM000679.1:g.12896218C=	GRCh37
NC_000017.9:g.12836943C=	NCBI36
NG_015808.1:g.30164G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2398G= MANE Select	ENSP00000337445.4:p.Ala800=
ENST00000338034.8:c.2398G=	ENSP00000337445.4:p.Ala800=
ENST00000395962.6:c.2341G=	ENSP00000379291.1:p.Ala781=
ENST00000426905.7:c.2278G=	ENSP00000405223.3:p.Ala760=
ENST00000465825.5:n.2285G=
ENST00000480891.5:n.2227G=
ENST00000484122.5:n.3228G=
ENST00000487229.6:n.1944G=
ENST00000584650.5:c.1797G=
NM_001165962.1:c.2278G=	NP_001159434.1:p.Ala760=
NM_018127.6:c.2398G=	NP_060597.4:p.Ala800=
NM_173717.1:c.2395G=	NP_776065.1:p.Ala799=
XM_024450850.1:c.2557G=	XP_024306618.1:p.Ala853=
XM_024450851.1:c.2479G=	XP_024306619.1:p.Ala827=
XM_024450852.1:c.2476G=	XP_024306620.1:p.Ala826=
XM_024450853.1:c.2473G=	XP_024306621.1:p.Ala825=
XM_024450854.1:c.2437G=	XP_024306622.1:p.Ala813=
XM_024450855.1:c.2356G=	XP_024306623.1:p.Ala786=
XM_024450856.1:c.2275G=	XP_024306624.1:p.Ala759=
XM_024450857.1:c.2275G=	XP_024306625.1:p.Ala759=
XM_024450858.1:c.2194G=	XP_024306626.1:p.Ala732=
XM_024450859.1:c.2191G=	XP_024306627.1:p.Ala731=
XM_024450860.1:c.2116G=	XP_024306628.1:p.Ala706=
XM_024450861.1:c.2116G=	XP_024306629.1:p.Ala706=
XM_024450862.1:c.2113G=	XP_024306630.1:p.Ala705=
NM_018127.7:c.2398G= MANE Select	NP_060597.4:p.Ala800=
NM_001165962.2:c.2278G=	NP_001159434.1:p.Ala760=
NM_173717.2:c.2395G=	NP_776065.1:p.Ala799=