Canonical Allele Identifier: CA8400789

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992842C>T , CM000679.2:g.12992842C>T	GRCh38
NC_000017.10:g.12896159C>T , CM000679.1:g.12896159C>T	GRCh37
NC_000017.9:g.12836884C>T	NCBI36
NG_015808.1:g.30223G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018127.7:c.2457G>A MANE Select	NP_060597.4:p.Gln819=
ENST00000338034.9:c.2457G>A MANE Select	ENSP00000337445.4:p.Gln819=
NM_001165962.1:c.2337G>A	NP_001159434.1:p.Gln779=
NM_001165962.2:c.2337G>A	NP_001159434.1:p.Gln779=
NM_018127.6:c.2457G>A	NP_060597.4:p.Gln819=
NM_173717.1:c.2454G>A	NP_776065.1:p.Gln818=
NM_173717.2:c.2454G>A	NP_776065.1:p.Gln818=
ENST00000338034.8:c.2457G>A	ENSP00000337445.4:p.Gln819=
ENST00000395962.6:c.2400G>A	ENSP00000379291.1:p.Gln800=
ENST00000426905.7:c.2337G>A	ENSP00000405223.3:p.Gln779=
ENST00000465825.5:n.2344G>A
ENST00000480891.5:n.2286G>A
ENST00000484122.5:n.3287G>A
ENST00000487229.6:n.2003G>A
ENST00000584650.5:c.1856G>A
XM_024450850.1:c.2616G>A	XP_024306618.1:p.Gln872=
XM_024450851.1:c.2538G>A	XP_024306619.1:p.Gln846=
XM_024450852.1:c.2535G>A	XP_024306620.1:p.Gln845=
XM_024450853.1:c.2532G>A	XP_024306621.1:p.Gln844=
XM_024450854.1:c.2496G>A	XP_024306622.1:p.Gln832=
XM_024450855.1:c.2415G>A	XP_024306623.1:p.Gln805=
XM_024450856.1:c.2334G>A	XP_024306624.1:p.Gln778=
XM_024450857.1:c.2334G>A	XP_024306625.1:p.Gln778=
XM_024450858.1:c.2253G>A	XP_024306626.1:p.Gln751=
XM_024450859.1:c.2250G>A	XP_024306627.1:p.Gln750=
XM_024450860.1:c.2175G>A	XP_024306628.1:p.Gln725=
XM_024450861.1:c.2175G>A	XP_024306629.1:p.Gln725=
XM_024450862.1:c.2172G>A	XP_024306630.1:p.Gln724=