Canonical Allele Identifier: CA8400831

Gene: ELAC2

Linked Data

• ClinVar Variation Id: 2155244
• ClinVar RCV Id: RCV003072239
• dbSNP Id: rs759606875
• ExAC: 17:12896290 C / T
• gnomAD v2: 17-12896290-C-T
• gnomAD v4: 17-12992973-C-T
• MyVariant Identifiers: chr17:g.12896290C>T (hg19) ; chr17:g.12992973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992973C>T , CM000679.2:g.12992973C>T	GRCh38
NC_000017.10:g.12896290C>T , CM000679.1:g.12896290C>T	GRCh37
NC_000017.9:g.12837015C>T	NCBI36
NG_015808.1:g.30092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2326G>A MANE Select	ENSP00000337445.4:p.Glu776Lys
ENST00000338034.8:c.2326G>A	ENSP00000337445.4:p.Glu776Lys
ENST00000395962.6:c.2269G>A	ENSP00000379291.1:p.Glu757Lys
ENST00000426905.7:c.2206G>A	ENSP00000405223.3:p.Glu736Lys
ENST00000465825.5:n.2213G>A
ENST00000480891.5:n.2155G>A
ENST00000484122.5:n.3156G>A
ENST00000487229.6:n.1872G>A
ENST00000584650.5:c.1725G>A
NM_001165962.1:c.2206G>A	NP_001159434.1:p.Glu736Lys
NM_018127.6:c.2326G>A	NP_060597.4:p.Glu776Lys
NM_173717.1:c.2323G>A	NP_776065.1:p.Glu775Lys
XM_024450850.1:c.2485G>A	XP_024306618.1:p.Glu829Lys
XM_024450851.1:c.2407G>A	XP_024306619.1:p.Glu803Lys
XM_024450852.1:c.2404G>A	XP_024306620.1:p.Glu802Lys
XM_024450853.1:c.2401G>A	XP_024306621.1:p.Glu801Lys
XM_024450854.1:c.2365G>A	XP_024306622.1:p.Glu789Lys
XM_024450855.1:c.2284G>A	XP_024306623.1:p.Glu762Lys
XM_024450856.1:c.2203G>A	XP_024306624.1:p.Glu735Lys
XM_024450857.1:c.2203G>A	XP_024306625.1:p.Glu735Lys
XM_024450858.1:c.2122G>A	XP_024306626.1:p.Glu708Lys
XM_024450859.1:c.2119G>A	XP_024306627.1:p.Glu707Lys
XM_024450860.1:c.2044G>A	XP_024306628.1:p.Glu682Lys
XM_024450861.1:c.2044G>A	XP_024306629.1:p.Glu682Lys
XM_024450862.1:c.2041G>A	XP_024306630.1:p.Glu681Lys
NM_018127.7:c.2326G>A MANE Select	NP_060597.4:p.Glu776Lys
NM_001165962.2:c.2206G>A	NP_001159434.1:p.Glu736Lys
NM_173717.2:c.2323G>A	NP_776065.1:p.Glu775Lys