Canonical Allele Identifier: CA398222127

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2524991
• ClinVar RCV Id: RCV003246060
• dbSNP Id: rs1374202791
• gnomAD v2: 17-12896197-C-T
• gnomAD v4: 17-12992880-C-T
• MyVariant Identifiers: chr17:g.12896197C>T (hg19) ; chr17:g.12992880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992880C>T , CM000679.2:g.12992880C>T	GRCh38
NC_000017.10:g.12896197C>T , CM000679.1:g.12896197C>T	GRCh37
NC_000017.9:g.12836922C>T	NCBI36
NG_015808.1:g.30185G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2419G>A MANE Select	ENSP00000337445.4:p.Glu807Lys
ENST00000338034.8:c.2419G>A	ENSP00000337445.4:p.Glu807Lys
ENST00000395962.6:c.2362G>A	ENSP00000379291.1:p.Glu788Lys
ENST00000426905.7:c.2299G>A	ENSP00000405223.3:p.Glu767Lys
ENST00000465825.5:n.2306G>A
ENST00000480891.5:n.2248G>A
ENST00000484122.5:n.3249G>A
ENST00000487229.6:n.1965G>A
ENST00000584650.5:c.1818G>A
NM_001165962.1:c.2299G>A	NP_001159434.1:p.Glu767Lys
NM_018127.6:c.2419G>A	NP_060597.4:p.Glu807Lys
NM_173717.1:c.2416G>A	NP_776065.1:p.Glu806Lys
XM_024450850.1:c.2578G>A	XP_024306618.1:p.Glu860Lys
XM_024450851.1:c.2500G>A	XP_024306619.1:p.Glu834Lys
XM_024450852.1:c.2497G>A	XP_024306620.1:p.Glu833Lys
XM_024450853.1:c.2494G>A	XP_024306621.1:p.Glu832Lys
XM_024450854.1:c.2458G>A	XP_024306622.1:p.Glu820Lys
XM_024450855.1:c.2377G>A	XP_024306623.1:p.Glu793Lys
XM_024450856.1:c.2296G>A	XP_024306624.1:p.Glu766Lys
XM_024450857.1:c.2296G>A	XP_024306625.1:p.Glu766Lys
XM_024450858.1:c.2215G>A	XP_024306626.1:p.Glu739Lys
XM_024450859.1:c.2212G>A	XP_024306627.1:p.Glu738Lys
XM_024450860.1:c.2137G>A	XP_024306628.1:p.Glu713Lys
XM_024450861.1:c.2137G>A	XP_024306629.1:p.Glu713Lys
XM_024450862.1:c.2134G>A	XP_024306630.1:p.Glu712Lys
NM_018127.7:c.2419G>A MANE Select	NP_060597.4:p.Glu807Lys
NM_001165962.2:c.2299G>A	NP_001159434.1:p.Glu767Lys
NM_173717.2:c.2416G>A	NP_776065.1:p.Glu806Lys