Canonical Allele Identifier: CA8400835

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 571175
• ClinVar RCV Id: RCV000692231
• dbSNP Id: rs550032568
• ExAC: 17:12896297 G / A
• gnomAD v2: 17-12896297-G-A
• gnomAD v3: 17-12992980-G-A
• gnomAD v4: 17-12992980-G-A
• MyVariant Identifiers: chr17:g.12896297G>A (hg19) ; chr17:g.12992980G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992980G>A , CM000679.2:g.12992980G>A	GRCh38
NC_000017.10:g.12896297G>A , CM000679.1:g.12896297G>A	GRCh37
NC_000017.9:g.12837022G>A	NCBI36
NG_015808.1:g.30085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2319C>T MANE Select	ENSP00000337445.4:p.Gly773=
ENST00000338034.8:c.2319C>T	ENSP00000337445.4:p.Gly773=
ENST00000395962.6:c.2262C>T	ENSP00000379291.1:p.Gly754=
ENST00000426905.7:c.2199C>T	ENSP00000405223.3:p.Gly733=
ENST00000465825.5:n.2206C>T
ENST00000480891.5:n.2148C>T
ENST00000484122.5:n.3149C>T
ENST00000487229.6:n.1865C>T
ENST00000584650.5:c.1718C>T
NM_001165962.1:c.2199C>T	NP_001159434.1:p.Gly733=
NM_018127.6:c.2319C>T	NP_060597.4:p.Gly773=
NM_173717.1:c.2316C>T	NP_776065.1:p.Gly772=
XM_024450850.1:c.2478C>T	XP_024306618.1:p.Gly826=
XM_024450851.1:c.2400C>T	XP_024306619.1:p.Gly800=
XM_024450852.1:c.2397C>T	XP_024306620.1:p.Gly799=
XM_024450853.1:c.2394C>T	XP_024306621.1:p.Gly798=
XM_024450854.1:c.2358C>T	XP_024306622.1:p.Gly786=
XM_024450855.1:c.2277C>T	XP_024306623.1:p.Gly759=
XM_024450856.1:c.2196C>T	XP_024306624.1:p.Gly732=
XM_024450857.1:c.2196C>T	XP_024306625.1:p.Gly732=
XM_024450858.1:c.2115C>T	XP_024306626.1:p.Gly705=
XM_024450859.1:c.2112C>T	XP_024306627.1:p.Gly704=
XM_024450860.1:c.2037C>T	XP_024306628.1:p.Gly679=
XM_024450861.1:c.2037C>T	XP_024306629.1:p.Gly679=
XM_024450862.1:c.2034C>T	XP_024306630.1:p.Gly678=
NM_018127.7:c.2319C>T MANE Select	NP_060597.4:p.Gly773=
NM_001165962.2:c.2199C>T	NP_001159434.1:p.Gly733=
NM_173717.2:c.2316C>T	NP_776065.1:p.Gly772=