Canonical Allele Identifier: CA398222216

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2114095
• ClinVar RCV Id: RCV003042613
• gnomAD v4: 17-12992931-C-T
• COSMIC: COSM1205172
• MyVariant Identifiers: chr17:g.12896248C>T (hg19) ; chr17:g.12992931C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992931C>T , CM000679.2:g.12992931C>T	GRCh38
NC_000017.10:g.12896248C>T , CM000679.1:g.12896248C>T	GRCh37
NC_000017.9:g.12836973C>T	NCBI36
NG_015808.1:g.30134G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2368G>A MANE Select	ENSP00000337445.4:p.Val790Met
ENST00000338034.8:c.2368G>A	ENSP00000337445.4:p.Val790Met
ENST00000395962.6:c.2311G>A	ENSP00000379291.1:p.Val771Met
ENST00000426905.7:c.2248G>A	ENSP00000405223.3:p.Val750Met
ENST00000465825.5:n.2255G>A
ENST00000480891.5:n.2197G>A
ENST00000484122.5:n.3198G>A
ENST00000487229.6:n.1914G>A
ENST00000584650.5:c.1767G>A
NM_001165962.1:c.2248G>A	NP_001159434.1:p.Val750Met
NM_018127.6:c.2368G>A	NP_060597.4:p.Val790Met
NM_173717.1:c.2365G>A	NP_776065.1:p.Val789Met
XM_024450850.1:c.2527G>A	XP_024306618.1:p.Val843Met
XM_024450851.1:c.2449G>A	XP_024306619.1:p.Val817Met
XM_024450852.1:c.2446G>A	XP_024306620.1:p.Val816Met
XM_024450853.1:c.2443G>A	XP_024306621.1:p.Val815Met
XM_024450854.1:c.2407G>A	XP_024306622.1:p.Val803Met
XM_024450855.1:c.2326G>A	XP_024306623.1:p.Val776Met
XM_024450856.1:c.2245G>A	XP_024306624.1:p.Val749Met
XM_024450857.1:c.2245G>A	XP_024306625.1:p.Val749Met
XM_024450858.1:c.2164G>A	XP_024306626.1:p.Val722Met
XM_024450859.1:c.2161G>A	XP_024306627.1:p.Val721Met
XM_024450860.1:c.2086G>A	XP_024306628.1:p.Val696Met
XM_024450861.1:c.2086G>A	XP_024306629.1:p.Val696Met
XM_024450862.1:c.2083G>A	XP_024306630.1:p.Val695Met
NM_018127.7:c.2368G>A MANE Select	NP_060597.4:p.Val790Met
NM_001165962.2:c.2248G>A	NP_001159434.1:p.Val750Met
NM_173717.2:c.2365G>A	NP_776065.1:p.Val789Met