Canonical Allele Identifier: CA8400834

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2047438
• ClinVar RCV Id: RCV002904303
• dbSNP Id: rs760538357
• ExAC: 17:12896296 C / T
• gnomAD v2: 17-12896296-C-T
• gnomAD v3: 17-12992979-C-T
• gnomAD v4: 17-12992979-C-T
• MyVariant Identifiers: chr17:g.12896296C>T (hg19) ; chr17:g.12992979C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992979C>T , CM000679.2:g.12992979C>T	GRCh38
NC_000017.10:g.12896296C>T , CM000679.1:g.12896296C>T	GRCh37
NC_000017.9:g.12837021C>T	NCBI36
NG_015808.1:g.30086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2320G>A MANE Select	ENSP00000337445.4:p.Asp774Asn
ENST00000338034.8:c.2320G>A	ENSP00000337445.4:p.Asp774Asn
ENST00000395962.6:c.2263G>A	ENSP00000379291.1:p.Asp755Asn
ENST00000426905.7:c.2200G>A	ENSP00000405223.3:p.Asp734Asn
ENST00000465825.5:n.2207G>A
ENST00000480891.5:n.2149G>A
ENST00000484122.5:n.3150G>A
ENST00000487229.6:n.1866G>A
ENST00000584650.5:c.1719G>A
NM_001165962.1:c.2200G>A	NP_001159434.1:p.Asp734Asn
NM_018127.6:c.2320G>A	NP_060597.4:p.Asp774Asn
NM_173717.1:c.2317G>A	NP_776065.1:p.Asp773Asn
XM_024450850.1:c.2479G>A	XP_024306618.1:p.Asp827Asn
XM_024450851.1:c.2401G>A	XP_024306619.1:p.Asp801Asn
XM_024450852.1:c.2398G>A	XP_024306620.1:p.Asp800Asn
XM_024450853.1:c.2395G>A	XP_024306621.1:p.Asp799Asn
XM_024450854.1:c.2359G>A	XP_024306622.1:p.Asp787Asn
XM_024450855.1:c.2278G>A	XP_024306623.1:p.Asp760Asn
XM_024450856.1:c.2197G>A	XP_024306624.1:p.Asp733Asn
XM_024450857.1:c.2197G>A	XP_024306625.1:p.Asp733Asn
XM_024450858.1:c.2116G>A	XP_024306626.1:p.Asp706Asn
XM_024450859.1:c.2113G>A	XP_024306627.1:p.Asp705Asn
XM_024450860.1:c.2038G>A	XP_024306628.1:p.Asp680Asn
XM_024450861.1:c.2038G>A	XP_024306629.1:p.Asp680Asn
XM_024450862.1:c.2035G>A	XP_024306630.1:p.Asp679Asn
NM_018127.7:c.2320G>A MANE Select	NP_060597.4:p.Asp774Asn
NM_001165962.2:c.2200G>A	NP_001159434.1:p.Asp734Asn
NM_173717.2:c.2317G>A	NP_776065.1:p.Asp773Asn