Canonical Allele Identifier: CA2573153040
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1374467
ClinVar RCV Id: RCV001900614
dbSNP Id: rs2143539834

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992906_12992907delinsAA , CM000679.2:g.12992906_12992907delinsAA GRCh38
NC_000017.10:g.12896223_12896224delinsAA , CM000679.1:g.12896223_12896224delinsAA GRCh37
NC_000017.9:g.12836948_12836949delinsAA NCBI36
NG_015808.1:g.30158_30159delinsTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2392_2393delinsTT MANE Select ENSP00000337445.4:p.Glu798Leu
ENST00000338034.8:c.2392_2393delinsTT ENSP00000337445.4:p.Glu798Leu
ENST00000395962.6:c.2335_2336delinsTT ENSP00000379291.1:p.Glu779Leu
ENST00000426905.7:c.2272_2273delinsTT ENSP00000405223.3:p.Glu758Leu
ENST00000465825.5:n.2279_2280delinsTT
ENST00000480891.5:n.2221_2222delinsTT
ENST00000484122.5:n.3222_3223delinsTT
ENST00000487229.6:n.1938_1939delinsTT
ENST00000584650.5:c.1791_1792delinsTT
NM_001165962.1:c.2272_2273delinsTT NP_001159434.1:p.Glu758Leu
NM_018127.6:c.2392_2393delinsTT NP_060597.4:p.Glu798Leu
NM_173717.1:c.2389_2390delinsTT NP_776065.1:p.Glu797Leu
XM_024450850.1:c.2551_2552delinsTT XP_024306618.1:p.Glu851Leu
XM_024450851.1:c.2473_2474delinsTT XP_024306619.1:p.Glu825Leu
XM_024450852.1:c.2470_2471delinsTT XP_024306620.1:p.Glu824Leu
XM_024450853.1:c.2467_2468delinsTT XP_024306621.1:p.Glu823Leu
XM_024450854.1:c.2431_2432delinsTT XP_024306622.1:p.Glu811Leu
XM_024450855.1:c.2350_2351delinsTT XP_024306623.1:p.Glu784Leu
XM_024450856.1:c.2269_2270delinsTT XP_024306624.1:p.Glu757Leu
XM_024450857.1:c.2269_2270delinsTT XP_024306625.1:p.Glu757Leu
XM_024450858.1:c.2188_2189delinsTT XP_024306626.1:p.Glu730Leu
XM_024450859.1:c.2185_2186delinsTT XP_024306627.1:p.Glu729Leu
XM_024450860.1:c.2110_2111delinsTT XP_024306628.1:p.Glu704Leu
XM_024450861.1:c.2110_2111delinsTT XP_024306629.1:p.Glu704Leu
XM_024450862.1:c.2107_2108delinsTT XP_024306630.1:p.Glu703Leu
NM_018127.7:c.2392_2393delinsTT MANE Select NP_060597.4:p.Glu798Leu
NM_001165962.2:c.2272_2273delinsTT NP_001159434.1:p.Glu758Leu
NM_173717.2:c.2389_2390delinsTT NP_776065.1:p.Glu797Leu