Canonical Allele Identifier: CA398222283

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896281C>T (hg19) ; chr17:g.12992964C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992964C>T , CM000679.2:g.12992964C>T	GRCh38
NC_000017.10:g.12896281C>T , CM000679.1:g.12896281C>T	GRCh37
NC_000017.9:g.12837006C>T	NCBI36
NG_015808.1:g.30101G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2335G>A MANE Select	ENSP00000337445.4:p.Glu779Lys
ENST00000338034.8:c.2335G>A	ENSP00000337445.4:p.Glu779Lys
ENST00000395962.6:c.2278G>A	ENSP00000379291.1:p.Glu760Lys
ENST00000426905.7:c.2215G>A	ENSP00000405223.3:p.Glu739Lys
ENST00000465825.5:n.2222G>A
ENST00000480891.5:n.2164G>A
ENST00000484122.5:n.3165G>A
ENST00000487229.6:n.1881G>A
ENST00000584650.5:c.1734G>A
NM_001165962.1:c.2215G>A	NP_001159434.1:p.Glu739Lys
NM_018127.6:c.2335G>A	NP_060597.4:p.Glu779Lys
NM_173717.1:c.2332G>A	NP_776065.1:p.Glu778Lys
XM_024450850.1:c.2494G>A	XP_024306618.1:p.Glu832Lys
XM_024450851.1:c.2416G>A	XP_024306619.1:p.Glu806Lys
XM_024450852.1:c.2413G>A	XP_024306620.1:p.Glu805Lys
XM_024450853.1:c.2410G>A	XP_024306621.1:p.Glu804Lys
XM_024450854.1:c.2374G>A	XP_024306622.1:p.Glu792Lys
XM_024450855.1:c.2293G>A	XP_024306623.1:p.Glu765Lys
XM_024450856.1:c.2212G>A	XP_024306624.1:p.Glu738Lys
XM_024450857.1:c.2212G>A	XP_024306625.1:p.Glu738Lys
XM_024450858.1:c.2131G>A	XP_024306626.1:p.Glu711Lys
XM_024450859.1:c.2128G>A	XP_024306627.1:p.Glu710Lys
XM_024450860.1:c.2053G>A	XP_024306628.1:p.Glu685Lys
XM_024450861.1:c.2053G>A	XP_024306629.1:p.Glu685Lys
XM_024450862.1:c.2050G>A	XP_024306630.1:p.Glu684Lys
NM_018127.7:c.2335G>A MANE Select	NP_060597.4:p.Glu779Lys
NM_001165962.2:c.2215G>A	NP_001159434.1:p.Glu739Lys
NM_173717.2:c.2332G>A	NP_776065.1:p.Glu778Lys