Canonical Allele Identifier: CA8400832
Gene: ELAC2 HGNC NCBI

Linked Data

dbSNP Id: rs759606875

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992973C>G , CM000679.2:g.12992973C>G GRCh38
NC_000017.10:g.12896290C>G , CM000679.1:g.12896290C>G GRCh37
NC_000017.9:g.12837015C>G NCBI36
NG_015808.1:g.30092G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2326G>C MANE Select ENSP00000337445.4:p.Glu776Gln
ENST00000338034.8:c.2326G>C ENSP00000337445.4:p.Glu776Gln
ENST00000395962.6:c.2269G>C ENSP00000379291.1:p.Glu757Gln
ENST00000426905.7:c.2206G>C ENSP00000405223.3:p.Glu736Gln
ENST00000465825.5:n.2213G>C
ENST00000480891.5:n.2155G>C
ENST00000484122.5:n.3156G>C
ENST00000487229.6:n.1872G>C
ENST00000584650.5:c.1725G>C
NM_001165962.1:c.2206G>C NP_001159434.1:p.Glu736Gln
NM_018127.6:c.2326G>C NP_060597.4:p.Glu776Gln
NM_173717.1:c.2323G>C NP_776065.1:p.Glu775Gln
XM_024450850.1:c.2485G>C XP_024306618.1:p.Glu829Gln
XM_024450851.1:c.2407G>C XP_024306619.1:p.Glu803Gln
XM_024450852.1:c.2404G>C XP_024306620.1:p.Glu802Gln
XM_024450853.1:c.2401G>C XP_024306621.1:p.Glu801Gln
XM_024450854.1:c.2365G>C XP_024306622.1:p.Glu789Gln
XM_024450855.1:c.2284G>C XP_024306623.1:p.Glu762Gln
XM_024450856.1:c.2203G>C XP_024306624.1:p.Glu735Gln
XM_024450857.1:c.2203G>C XP_024306625.1:p.Glu735Gln
XM_024450858.1:c.2122G>C XP_024306626.1:p.Glu708Gln
XM_024450859.1:c.2119G>C XP_024306627.1:p.Glu707Gln
XM_024450860.1:c.2044G>C XP_024306628.1:p.Glu682Gln
XM_024450861.1:c.2044G>C XP_024306629.1:p.Glu682Gln
XM_024450862.1:c.2041G>C XP_024306630.1:p.Glu681Gln
NM_018127.7:c.2326G>C MANE Select NP_060597.4:p.Glu776Gln
NM_001165962.2:c.2206G>C NP_001159434.1:p.Glu736Gln
NM_173717.2:c.2323G>C NP_776065.1:p.Glu775Gln