Canonical Allele Identifier: CA117235
Gene: ELAC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5058
dbSNP Id: rs119484086

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992957C>T , CM000679.2:g.12992957C>T GRCh38
NC_000017.10:g.12896274C>T , CM000679.1:g.12896274C>T GRCh37
NC_000017.9:g.12836999C>T NCBI36
NG_015808.1:g.30108G>A

Transcript Alleles

HGVS Amino-acid change
NM_001165962.1:c.2222G>A VV NP_001159434.1:p.Arg741His
NM_018127.6:c.2342G>A VV NP_060597.4:p.Arg781His
NM_173717.1:c.2339G>A VV NP_776065.1:p.Arg780His
XM_024450850.1:c.2501G>A XP_024306618.1:p.Arg834His
XM_024450851.1:c.2423G>A XP_024306619.1:p.Arg808His
XM_024450852.1:c.2420G>A XP_024306620.1:p.Arg807His
XM_024450853.1:c.2417G>A XP_024306621.1:p.Arg806His
XM_024450854.1:c.2381G>A XP_024306622.1:p.Arg794His
XM_024450855.1:c.2300G>A XP_024306623.1:p.Arg767His
XM_024450856.1:c.2219G>A XP_024306624.1:p.Arg740His
XM_024450857.1:c.2219G>A XP_024306625.1:p.Arg740His
XM_024450858.1:c.2138G>A XP_024306626.1:p.Arg713His
XM_024450859.1:c.2135G>A XP_024306627.1:p.Arg712His
XM_024450860.1:c.2060G>A XP_024306628.1:p.Arg687His
XM_024450861.1:c.2060G>A XP_024306629.1:p.Arg687His
XM_024450862.1:c.2057G>A XP_024306630.1:p.Arg686His
ENST00000338034.8:c.2342G>A ENSP00000337445.4:p.Arg781His
ENST00000395962.6:c.2285G>A ENSP00000379291.1:p.Arg762His
ENST00000426905.7:c.2222G>A ENSP00000405223.3:p.Arg741His
ENST00000465825.5:n.2229G>A
ENST00000480891.5:n.2171G>A
ENST00000484122.5:n.3172G>A
ENST00000487229.6:n.1888G>A
ENST00000584650.5:n.1741G>A