Canonical Allele Identifier: CA2248421466

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992899T= , CM000679.2:g.12992899T=	GRCh38
NC_000017.10:g.12896216T= , CM000679.1:g.12896216T=	GRCh37
NC_000017.9:g.12836941T=	NCBI36
NG_015808.1:g.30166A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2400A= MANE Select	ENSP00000337445.4:p.Ala800=
ENST00000338034.8:c.2400A=	ENSP00000337445.4:p.Ala800=
ENST00000395962.6:c.2343A=	ENSP00000379291.1:p.Ala781=
ENST00000426905.7:c.2280A=	ENSP00000405223.3:p.Ala760=
ENST00000465825.5:n.2287A=
ENST00000480891.5:n.2229A=
ENST00000484122.5:n.3230A=
ENST00000487229.6:n.1946A=
ENST00000584650.5:c.1799A=
NM_001165962.1:c.2280A=	NP_001159434.1:p.Ala760=
NM_018127.6:c.2400A=	NP_060597.4:p.Ala800=
NM_173717.1:c.2397A=	NP_776065.1:p.Ala799=
XM_024450850.1:c.2559A=	XP_024306618.1:p.Ala853=
XM_024450851.1:c.2481A=	XP_024306619.1:p.Ala827=
XM_024450852.1:c.2478A=	XP_024306620.1:p.Ala826=
XM_024450853.1:c.2475A=	XP_024306621.1:p.Ala825=
XM_024450854.1:c.2439A=	XP_024306622.1:p.Ala813=
XM_024450855.1:c.2358A=	XP_024306623.1:p.Ala786=
XM_024450856.1:c.2277A=	XP_024306624.1:p.Ala759=
XM_024450857.1:c.2277A=	XP_024306625.1:p.Ala759=
XM_024450858.1:c.2196A=	XP_024306626.1:p.Ala732=
XM_024450859.1:c.2193A=	XP_024306627.1:p.Ala731=
XM_024450860.1:c.2118A=	XP_024306628.1:p.Ala706=
XM_024450861.1:c.2118A=	XP_024306629.1:p.Ala706=
XM_024450862.1:c.2115A=	XP_024306630.1:p.Ala705=
NM_018127.7:c.2400A= MANE Select	NP_060597.4:p.Ala800=
NM_001165962.2:c.2280A=	NP_001159434.1:p.Ala760=
NM_173717.2:c.2397A=	NP_776065.1:p.Ala799=