Canonical Allele Identifier: CA398222298

Gene: ELAC2

Linked Data

• dbSNP Id: rs1418794567
• gnomAD v2: 17-12896287-C-T
• MyVariant Identifiers: chr17:g.12896287C>T (hg19) ; chr17:g.12992970C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992970C>T , CM000679.2:g.12992970C>T	GRCh38
NC_000017.10:g.12896287C>T , CM000679.1:g.12896287C>T	GRCh37
NC_000017.9:g.12837012C>T	NCBI36
NG_015808.1:g.30095G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2329G>A MANE Select	ENSP00000337445.4:p.Glu777Lys
ENST00000338034.8:c.2329G>A	ENSP00000337445.4:p.Glu777Lys
ENST00000395962.6:c.2272G>A	ENSP00000379291.1:p.Glu758Lys
ENST00000426905.7:c.2209G>A	ENSP00000405223.3:p.Glu737Lys
ENST00000465825.5:n.2216G>A
ENST00000480891.5:n.2158G>A
ENST00000484122.5:n.3159G>A
ENST00000487229.6:n.1875G>A
ENST00000584650.5:c.1728G>A
NM_001165962.1:c.2209G>A	NP_001159434.1:p.Glu737Lys
NM_018127.6:c.2329G>A	NP_060597.4:p.Glu777Lys
NM_173717.1:c.2326G>A	NP_776065.1:p.Glu776Lys
XM_024450850.1:c.2488G>A	XP_024306618.1:p.Glu830Lys
XM_024450851.1:c.2410G>A	XP_024306619.1:p.Glu804Lys
XM_024450852.1:c.2407G>A	XP_024306620.1:p.Glu803Lys
XM_024450853.1:c.2404G>A	XP_024306621.1:p.Glu802Lys
XM_024450854.1:c.2368G>A	XP_024306622.1:p.Glu790Lys
XM_024450855.1:c.2287G>A	XP_024306623.1:p.Glu763Lys
XM_024450856.1:c.2206G>A	XP_024306624.1:p.Glu736Lys
XM_024450857.1:c.2206G>A	XP_024306625.1:p.Glu736Lys
XM_024450858.1:c.2125G>A	XP_024306626.1:p.Glu709Lys
XM_024450859.1:c.2122G>A	XP_024306627.1:p.Glu708Lys
XM_024450860.1:c.2047G>A	XP_024306628.1:p.Glu683Lys
XM_024450861.1:c.2047G>A	XP_024306629.1:p.Glu683Lys
XM_024450862.1:c.2044G>A	XP_024306630.1:p.Glu682Lys
NM_018127.7:c.2329G>A MANE Select	NP_060597.4:p.Glu777Lys
NM_001165962.2:c.2209G>A	NP_001159434.1:p.Glu737Lys
NM_173717.2:c.2326G>A	NP_776065.1:p.Glu776Lys