Canonical Allele Identifier: CA8400812
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 408862
dbSNP Id: rs767378629

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992924G>A , CM000679.2:g.12992924G>A GRCh38
NC_000017.10:g.12896241G>A , CM000679.1:g.12896241G>A GRCh37
NC_000017.9:g.12836966G>A NCBI36
NG_015808.1:g.30141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2375C>T MANE Select ENSP00000337445.4:p.Ala792Val
ENST00000338034.8:c.2375C>T ENSP00000337445.4:p.Ala792Val
ENST00000395962.6:c.2318C>T ENSP00000379291.1:p.Ala773Val
ENST00000426905.7:c.2255C>T ENSP00000405223.3:p.Ala752Val
ENST00000465825.5:n.2262C>T
ENST00000480891.5:n.2204C>T
ENST00000484122.5:n.3205C>T
ENST00000487229.6:n.1921C>T
ENST00000584650.5:c.1774C>T
NM_001165962.1:c.2255C>T NP_001159434.1:p.Ala752Val
NM_018127.6:c.2375C>T NP_060597.4:p.Ala792Val
NM_173717.1:c.2372C>T NP_776065.1:p.Ala791Val
XM_024450850.1:c.2534C>T XP_024306618.1:p.Ala845Val
XM_024450851.1:c.2456C>T XP_024306619.1:p.Ala819Val
XM_024450852.1:c.2453C>T XP_024306620.1:p.Ala818Val
XM_024450853.1:c.2450C>T XP_024306621.1:p.Ala817Val
XM_024450854.1:c.2414C>T XP_024306622.1:p.Ala805Val
XM_024450855.1:c.2333C>T XP_024306623.1:p.Ala778Val
XM_024450856.1:c.2252C>T XP_024306624.1:p.Ala751Val
XM_024450857.1:c.2252C>T XP_024306625.1:p.Ala751Val
XM_024450858.1:c.2171C>T XP_024306626.1:p.Ala724Val
XM_024450859.1:c.2168C>T XP_024306627.1:p.Ala723Val
XM_024450860.1:c.2093C>T XP_024306628.1:p.Ala698Val
XM_024450861.1:c.2093C>T XP_024306629.1:p.Ala698Val
XM_024450862.1:c.2090C>T XP_024306630.1:p.Ala697Val
NM_018127.7:c.2375C>T MANE Select NP_060597.4:p.Ala792Val
NM_001165962.2:c.2255C>T NP_001159434.1:p.Ala752Val
NM_173717.2:c.2372C>T NP_776065.1:p.Ala791Val