Canonical Allele Identifier: CA398222422

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993031-G-T
• MyVariant Identifiers: chr17:g.12896348G>T (hg19) ; chr17:g.12993031G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993031G>T , CM000679.2:g.12993031G>T	GRCh38
NC_000017.10:g.12896348G>T , CM000679.1:g.12896348G>T	GRCh37
NC_000017.9:g.12837073G>T	NCBI36
NG_015808.1:g.30034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2268C>A MANE Select	ENSP00000337445.4:p.Asp756Glu
ENST00000338034.8:c.2268C>A	ENSP00000337445.4:p.Asp756Glu
ENST00000395962.6:c.2211C>A	ENSP00000379291.1:p.Asp737Glu
ENST00000426905.7:c.2148C>A	ENSP00000405223.3:p.Asp716Glu
ENST00000465825.5:n.2155C>A
ENST00000480891.5:n.2097C>A
ENST00000484122.5:n.3098C>A
ENST00000487229.6:n.1814C>A
ENST00000584650.5:c.1667C>A
NM_001165962.1:c.2148C>A	NP_001159434.1:p.Asp716Glu
NM_018127.6:c.2268C>A	NP_060597.4:p.Asp756Glu
NM_173717.1:c.2265C>A	NP_776065.1:p.Asp755Glu
XM_024450850.1:c.2427C>A	XP_024306618.1:p.Asp809Glu
XM_024450851.1:c.2349C>A	XP_024306619.1:p.Asp783Glu
XM_024450852.1:c.2346C>A	XP_024306620.1:p.Asp782Glu
XM_024450853.1:c.2343C>A	XP_024306621.1:p.Asp781Glu
XM_024450854.1:c.2307C>A	XP_024306622.1:p.Asp769Glu
XM_024450855.1:c.2226C>A	XP_024306623.1:p.Asp742Glu
XM_024450856.1:c.2145C>A	XP_024306624.1:p.Asp715Glu
XM_024450857.1:c.2145C>A	XP_024306625.1:p.Asp715Glu
XM_024450858.1:c.2064C>A	XP_024306626.1:p.Asp688Glu
XM_024450859.1:c.2061C>A	XP_024306627.1:p.Asp687Glu
XM_024450860.1:c.1986C>A	XP_024306628.1:p.Asp662Glu
XM_024450861.1:c.1986C>A	XP_024306629.1:p.Asp662Glu
XM_024450862.1:c.1983C>A	XP_024306630.1:p.Asp661Glu
NM_018127.7:c.2268C>A MANE Select	NP_060597.4:p.Asp756Glu
NM_001165962.2:c.2148C>A	NP_001159434.1:p.Asp716Glu
NM_173717.2:c.2265C>A	NP_776065.1:p.Asp755Glu