Canonical Allele Identifier: CA398222209

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1515771
• ClinVar RCV Id: RCV002048609
• dbSNP Id: rs1567738119
• gnomAD v2: 17-12896242-C-T
• gnomAD v4: 17-12992925-C-T
• MyVariant Identifiers: chr17:g.12896242C>T (hg19) ; chr17:g.12992925C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992925C>T , CM000679.2:g.12992925C>T	GRCh38
NC_000017.10:g.12896242C>T , CM000679.1:g.12896242C>T	GRCh37
NC_000017.9:g.12836967C>T	NCBI36
NG_015808.1:g.30140G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2374G>A MANE Select	ENSP00000337445.4:p.Ala792Thr
ENST00000338034.8:c.2374G>A	ENSP00000337445.4:p.Ala792Thr
ENST00000395962.6:c.2317G>A	ENSP00000379291.1:p.Ala773Thr
ENST00000426905.7:c.2254G>A	ENSP00000405223.3:p.Ala752Thr
ENST00000465825.5:n.2261G>A
ENST00000480891.5:n.2203G>A
ENST00000484122.5:n.3204G>A
ENST00000487229.6:n.1920G>A
ENST00000584650.5:c.1773G>A
NM_001165962.1:c.2254G>A	NP_001159434.1:p.Ala752Thr
NM_018127.6:c.2374G>A	NP_060597.4:p.Ala792Thr
NM_173717.1:c.2371G>A	NP_776065.1:p.Ala791Thr
XM_024450850.1:c.2533G>A	XP_024306618.1:p.Ala845Thr
XM_024450851.1:c.2455G>A	XP_024306619.1:p.Ala819Thr
XM_024450852.1:c.2452G>A	XP_024306620.1:p.Ala818Thr
XM_024450853.1:c.2449G>A	XP_024306621.1:p.Ala817Thr
XM_024450854.1:c.2413G>A	XP_024306622.1:p.Ala805Thr
XM_024450855.1:c.2332G>A	XP_024306623.1:p.Ala778Thr
XM_024450856.1:c.2251G>A	XP_024306624.1:p.Ala751Thr
XM_024450857.1:c.2251G>A	XP_024306625.1:p.Ala751Thr
XM_024450858.1:c.2170G>A	XP_024306626.1:p.Ala724Thr
XM_024450859.1:c.2167G>A	XP_024306627.1:p.Ala723Thr
XM_024450860.1:c.2092G>A	XP_024306628.1:p.Ala698Thr
XM_024450861.1:c.2092G>A	XP_024306629.1:p.Ala698Thr
XM_024450862.1:c.2089G>A	XP_024306630.1:p.Ala697Thr
NM_018127.7:c.2374G>A MANE Select	NP_060597.4:p.Ala792Thr
NM_001165962.2:c.2254G>A	NP_001159434.1:p.Ala752Thr
NM_173717.2:c.2371G>A	NP_776065.1:p.Ala791Thr