Canonical Allele Identifier: CA398222320

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992981-C-T
• MyVariant Identifiers: chr17:g.12896298C>T (hg19) ; chr17:g.12992981C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992981C>T , CM000679.2:g.12992981C>T	GRCh38
NC_000017.10:g.12896298C>T , CM000679.1:g.12896298C>T	GRCh37
NC_000017.9:g.12837023C>T	NCBI36
NG_015808.1:g.30084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2318G>A MANE Select	ENSP00000337445.4:p.Gly773Asp
ENST00000338034.8:c.2318G>A	ENSP00000337445.4:p.Gly773Asp
ENST00000395962.6:c.2261G>A	ENSP00000379291.1:p.Gly754Asp
ENST00000426905.7:c.2198G>A	ENSP00000405223.3:p.Gly733Asp
ENST00000465825.5:n.2205G>A
ENST00000480891.5:n.2147G>A
ENST00000484122.5:n.3148G>A
ENST00000487229.6:n.1864G>A
ENST00000584650.5:c.1717G>A
NM_001165962.1:c.2198G>A	NP_001159434.1:p.Gly733Asp
NM_018127.6:c.2318G>A	NP_060597.4:p.Gly773Asp
NM_173717.1:c.2315G>A	NP_776065.1:p.Gly772Asp
XM_024450850.1:c.2477G>A	XP_024306618.1:p.Gly826Asp
XM_024450851.1:c.2399G>A	XP_024306619.1:p.Gly800Asp
XM_024450852.1:c.2396G>A	XP_024306620.1:p.Gly799Asp
XM_024450853.1:c.2393G>A	XP_024306621.1:p.Gly798Asp
XM_024450854.1:c.2357G>A	XP_024306622.1:p.Gly786Asp
XM_024450855.1:c.2276G>A	XP_024306623.1:p.Gly759Asp
XM_024450856.1:c.2195G>A	XP_024306624.1:p.Gly732Asp
XM_024450857.1:c.2195G>A	XP_024306625.1:p.Gly732Asp
XM_024450858.1:c.2114G>A	XP_024306626.1:p.Gly705Asp
XM_024450859.1:c.2111G>A	XP_024306627.1:p.Gly704Asp
XM_024450860.1:c.2036G>A	XP_024306628.1:p.Gly679Asp
XM_024450861.1:c.2036G>A	XP_024306629.1:p.Gly679Asp
XM_024450862.1:c.2033G>A	XP_024306630.1:p.Gly678Asp
NM_018127.7:c.2318G>A MANE Select	NP_060597.4:p.Gly773Asp
NM_001165962.2:c.2198G>A	NP_001159434.1:p.Gly733Asp
NM_173717.2:c.2315G>A	NP_776065.1:p.Gly772Asp