Canonical Allele Identifier: CA8400841

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 795745
• ClinVar RCV Id: RCV001079004
• dbSNP Id: rs371543722
• ExAC: 17:12896321 G / C
• gnomAD v2: 17-12896321-G-C
• gnomAD v3: 17-12993004-G-C
• gnomAD v4: 17-12993004-G-C
• MyVariant Identifiers: chr17:g.12896321G>C (hg19) ; chr17:g.12993004G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993004G>C , CM000679.2:g.12993004G>C	GRCh38
NC_000017.10:g.12896321G>C , CM000679.1:g.12896321G>C	GRCh37
NC_000017.9:g.12837046G>C	NCBI36
NG_015808.1:g.30061C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2295C>G MANE Select	ENSP00000337445.4:p.Pro765=
ENST00000338034.8:c.2295C>G	ENSP00000337445.4:p.Pro765=
ENST00000395962.6:c.2238C>G	ENSP00000379291.1:p.Pro746=
ENST00000426905.7:c.2175C>G	ENSP00000405223.3:p.Pro725=
ENST00000465825.5:n.2182C>G
ENST00000480891.5:n.2124C>G
ENST00000484122.5:n.3125C>G
ENST00000487229.6:n.1841C>G
ENST00000584650.5:c.1694C>G
NM_001165962.1:c.2175C>G	NP_001159434.1:p.Pro725=
NM_018127.6:c.2295C>G	NP_060597.4:p.Pro765=
NM_173717.1:c.2292C>G	NP_776065.1:p.Pro764=
XM_024450850.1:c.2454C>G	XP_024306618.1:p.Pro818=
XM_024450851.1:c.2376C>G	XP_024306619.1:p.Pro792=
XM_024450852.1:c.2373C>G	XP_024306620.1:p.Pro791=
XM_024450853.1:c.2370C>G	XP_024306621.1:p.Pro790=
XM_024450854.1:c.2334C>G	XP_024306622.1:p.Pro778=
XM_024450855.1:c.2253C>G	XP_024306623.1:p.Pro751=
XM_024450856.1:c.2172C>G	XP_024306624.1:p.Pro724=
XM_024450857.1:c.2172C>G	XP_024306625.1:p.Pro724=
XM_024450858.1:c.2091C>G	XP_024306626.1:p.Pro697=
XM_024450859.1:c.2088C>G	XP_024306627.1:p.Pro696=
XM_024450860.1:c.2013C>G	XP_024306628.1:p.Pro671=
XM_024450861.1:c.2013C>G	XP_024306629.1:p.Pro671=
XM_024450862.1:c.2010C>G	XP_024306630.1:p.Pro670=
NM_018127.7:c.2295C>G MANE Select	NP_060597.4:p.Pro765=
NM_001165962.2:c.2175C>G	NP_001159434.1:p.Pro725=
NM_173717.2:c.2292C>G	NP_776065.1:p.Pro764=