Canonical Allele Identifier: CA498009696

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993013-C-T
• MyVariant Identifiers: chr17:g.12896330C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993013C>T , CM000679.2:g.12993013C>T	GRCh38
NC_000017.10:g.12896330C>T , CM000679.1:g.12896330C>T	GRCh37
NC_000017.9:g.12837055C>T	NCBI36
NG_015808.1:g.30052G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2286G>A MANE Select	ENSP00000337445.4:p.Lys762=
ENST00000338034.8:c.2286G>A	ENSP00000337445.4:p.Lys762=
ENST00000395962.6:c.2229G>A	ENSP00000379291.1:p.Lys743=
ENST00000426905.7:c.2166G>A	ENSP00000405223.3:p.Lys722=
ENST00000465825.5:n.2173G>A
ENST00000480891.5:n.2115G>A
ENST00000484122.5:n.3116G>A
ENST00000487229.6:n.1832G>A
ENST00000584650.5:c.1685G>A
NM_001165962.1:c.2166G>A	NP_001159434.1:p.Lys722=
NM_018127.6:c.2286G>A	NP_060597.4:p.Lys762=
NM_173717.1:c.2283G>A	NP_776065.1:p.Lys761=
XM_024450850.1:c.2445G>A	XP_024306618.1:p.Lys815=
XM_024450851.1:c.2367G>A	XP_024306619.1:p.Lys789=
XM_024450852.1:c.2364G>A	XP_024306620.1:p.Lys788=
XM_024450853.1:c.2361G>A	XP_024306621.1:p.Lys787=
XM_024450854.1:c.2325G>A	XP_024306622.1:p.Lys775=
XM_024450855.1:c.2244G>A	XP_024306623.1:p.Lys748=
XM_024450856.1:c.2163G>A	XP_024306624.1:p.Lys721=
XM_024450857.1:c.2163G>A	XP_024306625.1:p.Lys721=
XM_024450858.1:c.2082G>A	XP_024306626.1:p.Lys694=
XM_024450859.1:c.2079G>A	XP_024306627.1:p.Lys693=
XM_024450860.1:c.2004G>A	XP_024306628.1:p.Lys668=
XM_024450861.1:c.2004G>A	XP_024306629.1:p.Lys668=
XM_024450862.1:c.2001G>A	XP_024306630.1:p.Lys667=
NM_018127.7:c.2286G>A MANE Select	NP_060597.4:p.Lys762=
NM_001165962.2:c.2166G>A	NP_001159434.1:p.Lys722=
NM_173717.2:c.2283G>A	NP_776065.1:p.Lys761=