Canonical Allele Identifier: CA398222159

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2002603
• ClinVar RCV Id: RCV002820535
• gnomAD v4: 17-12992897-C-T
• MyVariant Identifiers: chr17:g.12896214C>T (hg19) ; chr17:g.12992897C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992897C>T , CM000679.2:g.12992897C>T	GRCh38
NC_000017.10:g.12896214C>T , CM000679.1:g.12896214C>T	GRCh37
NC_000017.9:g.12836939C>T	NCBI36
NG_015808.1:g.30168G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2402G>A MANE Select	ENSP00000337445.4:p.Gly801Asp
ENST00000338034.8:c.2402G>A	ENSP00000337445.4:p.Gly801Asp
ENST00000395962.6:c.2345G>A	ENSP00000379291.1:p.Gly782Asp
ENST00000426905.7:c.2282G>A	ENSP00000405223.3:p.Gly761Asp
ENST00000465825.5:n.2289G>A
ENST00000480891.5:n.2231G>A
ENST00000484122.5:n.3232G>A
ENST00000487229.6:n.1948G>A
ENST00000584650.5:c.1801G>A
NM_001165962.1:c.2282G>A	NP_001159434.1:p.Gly761Asp
NM_018127.6:c.2402G>A	NP_060597.4:p.Gly801Asp
NM_173717.1:c.2399G>A	NP_776065.1:p.Gly800Asp
XM_024450850.1:c.2561G>A	XP_024306618.1:p.Gly854Asp
XM_024450851.1:c.2483G>A	XP_024306619.1:p.Gly828Asp
XM_024450852.1:c.2480G>A	XP_024306620.1:p.Gly827Asp
XM_024450853.1:c.2477G>A	XP_024306621.1:p.Gly826Asp
XM_024450854.1:c.2441G>A	XP_024306622.1:p.Gly814Asp
XM_024450855.1:c.2360G>A	XP_024306623.1:p.Gly787Asp
XM_024450856.1:c.2279G>A	XP_024306624.1:p.Gly760Asp
XM_024450857.1:c.2279G>A	XP_024306625.1:p.Gly760Asp
XM_024450858.1:c.2198G>A	XP_024306626.1:p.Gly733Asp
XM_024450859.1:c.2195G>A	XP_024306627.1:p.Gly732Asp
XM_024450860.1:c.2120G>A	XP_024306628.1:p.Gly707Asp
XM_024450861.1:c.2120G>A	XP_024306629.1:p.Gly707Asp
XM_024450862.1:c.2117G>A	XP_024306630.1:p.Gly706Asp
NM_018127.7:c.2402G>A MANE Select	NP_060597.4:p.Gly801Asp
NM_001165962.2:c.2282G>A	NP_001159434.1:p.Gly761Asp
NM_173717.2:c.2399G>A	NP_776065.1:p.Gly800Asp