Canonical Allele Identifier: CA398222240

Gene: ELAC2

Linked Data

• dbSNP Id: rs1294892985
• gnomAD v2: 17-12896260-C-T
• MyVariant Identifiers: chr17:g.12896260C>T (hg19) ; chr17:g.12992943C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992943C>T , CM000679.2:g.12992943C>T	GRCh38
NC_000017.10:g.12896260C>T , CM000679.1:g.12896260C>T	GRCh37
NC_000017.9:g.12836985C>T	NCBI36
NG_015808.1:g.30122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2356G>A MANE Select	ENSP00000337445.4:p.Glu786Lys
ENST00000338034.8:c.2356G>A	ENSP00000337445.4:p.Glu786Lys
ENST00000395962.6:c.2299G>A	ENSP00000379291.1:p.Glu767Lys
ENST00000426905.7:c.2236G>A	ENSP00000405223.3:p.Glu746Lys
ENST00000465825.5:n.2243G>A
ENST00000480891.5:n.2185G>A
ENST00000484122.5:n.3186G>A
ENST00000487229.6:n.1902G>A
ENST00000584650.5:c.1755G>A
NM_001165962.1:c.2236G>A	NP_001159434.1:p.Glu746Lys
NM_018127.6:c.2356G>A	NP_060597.4:p.Glu786Lys
NM_173717.1:c.2353G>A	NP_776065.1:p.Glu785Lys
XM_024450850.1:c.2515G>A	XP_024306618.1:p.Glu839Lys
XM_024450851.1:c.2437G>A	XP_024306619.1:p.Glu813Lys
XM_024450852.1:c.2434G>A	XP_024306620.1:p.Glu812Lys
XM_024450853.1:c.2431G>A	XP_024306621.1:p.Glu811Lys
XM_024450854.1:c.2395G>A	XP_024306622.1:p.Glu799Lys
XM_024450855.1:c.2314G>A	XP_024306623.1:p.Glu772Lys
XM_024450856.1:c.2233G>A	XP_024306624.1:p.Glu745Lys
XM_024450857.1:c.2233G>A	XP_024306625.1:p.Glu745Lys
XM_024450858.1:c.2152G>A	XP_024306626.1:p.Glu718Lys
XM_024450859.1:c.2149G>A	XP_024306627.1:p.Glu717Lys
XM_024450860.1:c.2074G>A	XP_024306628.1:p.Glu692Lys
XM_024450861.1:c.2074G>A	XP_024306629.1:p.Glu692Lys
XM_024450862.1:c.2071G>A	XP_024306630.1:p.Glu691Lys
NM_018127.7:c.2356G>A MANE Select	NP_060597.4:p.Glu786Lys
NM_001165962.2:c.2236G>A	NP_001159434.1:p.Glu746Lys
NM_173717.2:c.2353G>A	NP_776065.1:p.Glu785Lys