Canonical Allele Identifier: CA8400795

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 1504125
• ClinVar RCV Id: RCV002047720 ; RCV002463100 ; RCV002675466
• dbSNP Id: rs767611235
• ExAC: 17:12896182 G / A
• gnomAD v2: 17-12896182-G-A
• gnomAD v4: 17-12992865-G-A
• MyVariant Identifiers: chr17:g.12896182G>A (hg19) ; chr17:g.12992865G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992865G>A , CM000679.2:g.12992865G>A	GRCh38
NC_000017.10:g.12896182G>A , CM000679.1:g.12896182G>A	GRCh37
NC_000017.9:g.12836907G>A	NCBI36
NG_015808.1:g.30200C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2434C>T MANE Select	ENSP00000337445.4:p.Arg812Trp
ENST00000338034.8:c.2434C>T	ENSP00000337445.4:p.Arg812Trp
ENST00000395962.6:c.2377C>T	ENSP00000379291.1:p.Arg793Trp
ENST00000426905.7:c.2314C>T	ENSP00000405223.3:p.Arg772Trp
ENST00000465825.5:n.2321C>T
ENST00000480891.5:n.2263C>T
ENST00000484122.5:n.3264C>T
ENST00000487229.6:n.1980C>T
ENST00000584650.5:c.1833C>T
NM_001165962.1:c.2314C>T	NP_001159434.1:p.Arg772Trp
NM_018127.6:c.2434C>T	NP_060597.4:p.Arg812Trp
NM_173717.1:c.2431C>T	NP_776065.1:p.Arg811Trp
XM_024450850.1:c.2593C>T	XP_024306618.1:p.Arg865Trp
XM_024450851.1:c.2515C>T	XP_024306619.1:p.Arg839Trp
XM_024450852.1:c.2512C>T	XP_024306620.1:p.Arg838Trp
XM_024450853.1:c.2509C>T	XP_024306621.1:p.Arg837Trp
XM_024450854.1:c.2473C>T	XP_024306622.1:p.Arg825Trp
XM_024450855.1:c.2392C>T	XP_024306623.1:p.Arg798Trp
XM_024450856.1:c.2311C>T	XP_024306624.1:p.Arg771Trp
XM_024450857.1:c.2311C>T	XP_024306625.1:p.Arg771Trp
XM_024450858.1:c.2230C>T	XP_024306626.1:p.Arg744Trp
XM_024450859.1:c.2227C>T	XP_024306627.1:p.Arg743Trp
XM_024450860.1:c.2152C>T	XP_024306628.1:p.Arg718Trp
XM_024450861.1:c.2152C>T	XP_024306629.1:p.Arg718Trp
XM_024450862.1:c.2149C>T	XP_024306630.1:p.Arg717Trp
NM_018127.7:c.2434C>T MANE Select	NP_060597.4:p.Arg812Trp
NM_001165962.2:c.2314C>T	NP_001159434.1:p.Arg772Trp
NM_173717.2:c.2431C>T	NP_776065.1:p.Arg811Trp