Canonical Allele Identifier: CA398222146

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896206C>T (hg19) ; chr17:g.12992889C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992889C>T , CM000679.2:g.12992889C>T	GRCh38
NC_000017.10:g.12896206C>T , CM000679.1:g.12896206C>T	GRCh37
NC_000017.9:g.12836931C>T	NCBI36
NG_015808.1:g.30176G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2410G>A MANE Select	ENSP00000337445.4:p.Glu804Lys
ENST00000338034.8:c.2410G>A	ENSP00000337445.4:p.Glu804Lys
ENST00000395962.6:c.2353G>A	ENSP00000379291.1:p.Glu785Lys
ENST00000426905.7:c.2290G>A	ENSP00000405223.3:p.Glu764Lys
ENST00000465825.5:n.2297G>A
ENST00000480891.5:n.2239G>A
ENST00000484122.5:n.3240G>A
ENST00000487229.6:n.1956G>A
ENST00000584650.5:c.1809G>A
NM_001165962.1:c.2290G>A	NP_001159434.1:p.Glu764Lys
NM_018127.6:c.2410G>A	NP_060597.4:p.Glu804Lys
NM_173717.1:c.2407G>A	NP_776065.1:p.Glu803Lys
XM_024450850.1:c.2569G>A	XP_024306618.1:p.Glu857Lys
XM_024450851.1:c.2491G>A	XP_024306619.1:p.Glu831Lys
XM_024450852.1:c.2488G>A	XP_024306620.1:p.Glu830Lys
XM_024450853.1:c.2485G>A	XP_024306621.1:p.Glu829Lys
XM_024450854.1:c.2449G>A	XP_024306622.1:p.Glu817Lys
XM_024450855.1:c.2368G>A	XP_024306623.1:p.Glu790Lys
XM_024450856.1:c.2287G>A	XP_024306624.1:p.Glu763Lys
XM_024450857.1:c.2287G>A	XP_024306625.1:p.Glu763Lys
XM_024450858.1:c.2206G>A	XP_024306626.1:p.Glu736Lys
XM_024450859.1:c.2203G>A	XP_024306627.1:p.Glu735Lys
XM_024450860.1:c.2128G>A	XP_024306628.1:p.Glu710Lys
XM_024450861.1:c.2128G>A	XP_024306629.1:p.Glu710Lys
XM_024450862.1:c.2125G>A	XP_024306630.1:p.Glu709Lys
NM_018127.7:c.2410G>A MANE Select	NP_060597.4:p.Glu804Lys
NM_001165962.2:c.2290G>A	NP_001159434.1:p.Glu764Lys
NM_173717.2:c.2407G>A	NP_776065.1:p.Glu803Lys