Canonical Allele Identifier: CA8400812

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 408862
• ClinVar RCV Id: RCV000456363 ; RCV003317218
• dbSNP Id: rs767378629
• ExAC: 17:12896241 G / A
• gnomAD v2: 17-12896241-G-A
• gnomAD v3: 17-12992924-G-A
• gnomAD v4: 17-12992924-G-A
• MyVariant Identifiers: chr17:g.12896241G>A (hg19) ; chr17:g.12992924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992924G>A , CM000679.2:g.12992924G>A	GRCh38
NC_000017.10:g.12896241G>A , CM000679.1:g.12896241G>A	GRCh37
NC_000017.9:g.12836966G>A	NCBI36
NG_015808.1:g.30141C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2375C>T MANE Select	ENSP00000337445.4:p.Ala792Val
ENST00000338034.8:c.2375C>T	ENSP00000337445.4:p.Ala792Val
ENST00000395962.6:c.2318C>T	ENSP00000379291.1:p.Ala773Val
ENST00000426905.7:c.2255C>T	ENSP00000405223.3:p.Ala752Val
ENST00000465825.5:n.2262C>T
ENST00000480891.5:n.2204C>T
ENST00000484122.5:n.3205C>T
ENST00000487229.6:n.1921C>T
ENST00000584650.5:c.1774C>T
NM_001165962.1:c.2255C>T	NP_001159434.1:p.Ala752Val
NM_018127.6:c.2375C>T	NP_060597.4:p.Ala792Val
NM_173717.1:c.2372C>T	NP_776065.1:p.Ala791Val
XM_024450850.1:c.2534C>T	XP_024306618.1:p.Ala845Val
XM_024450851.1:c.2456C>T	XP_024306619.1:p.Ala819Val
XM_024450852.1:c.2453C>T	XP_024306620.1:p.Ala818Val
XM_024450853.1:c.2450C>T	XP_024306621.1:p.Ala817Val
XM_024450854.1:c.2414C>T	XP_024306622.1:p.Ala805Val
XM_024450855.1:c.2333C>T	XP_024306623.1:p.Ala778Val
XM_024450856.1:c.2252C>T	XP_024306624.1:p.Ala751Val
XM_024450857.1:c.2252C>T	XP_024306625.1:p.Ala751Val
XM_024450858.1:c.2171C>T	XP_024306626.1:p.Ala724Val
XM_024450859.1:c.2168C>T	XP_024306627.1:p.Ala723Val
XM_024450860.1:c.2093C>T	XP_024306628.1:p.Ala698Val
XM_024450861.1:c.2093C>T	XP_024306629.1:p.Ala698Val
XM_024450862.1:c.2090C>T	XP_024306630.1:p.Ala697Val
NM_018127.7:c.2375C>T MANE Select	NP_060597.4:p.Ala792Val
NM_001165962.2:c.2255C>T	NP_001159434.1:p.Ala752Val
NM_173717.2:c.2372C>T	NP_776065.1:p.Ala791Val