Canonical Allele Identifier: CA398222049

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896161G>T (hg19) ; chr17:g.12992844G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992844G>T , CM000679.2:g.12992844G>T	GRCh38
NC_000017.10:g.12896161G>T , CM000679.1:g.12896161G>T	GRCh37
NC_000017.9:g.12836886G>T	NCBI36
NG_015808.1:g.30221C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2455C>A MANE Select	ENSP00000337445.4:p.Gln819Lys
ENST00000338034.8:c.2455C>A	ENSP00000337445.4:p.Gln819Lys
ENST00000395962.6:c.2398C>A	ENSP00000379291.1:p.Gln800Lys
ENST00000426905.7:c.2335C>A	ENSP00000405223.3:p.Gln779Lys
ENST00000465825.5:n.2342C>A
ENST00000480891.5:n.2284C>A
ENST00000484122.5:n.3285C>A
ENST00000487229.6:n.2001C>A
ENST00000584650.5:c.1854C>A
NM_001165962.1:c.2335C>A	NP_001159434.1:p.Gln779Lys
NM_018127.6:c.2455C>A	NP_060597.4:p.Gln819Lys
NM_173717.1:c.2452C>A	NP_776065.1:p.Gln818Lys
XM_024450850.1:c.2614C>A	XP_024306618.1:p.Gln872Lys
XM_024450851.1:c.2536C>A	XP_024306619.1:p.Gln846Lys
XM_024450852.1:c.2533C>A	XP_024306620.1:p.Gln845Lys
XM_024450853.1:c.2530C>A	XP_024306621.1:p.Gln844Lys
XM_024450854.1:c.2494C>A	XP_024306622.1:p.Gln832Lys
XM_024450855.1:c.2413C>A	XP_024306623.1:p.Gln805Lys
XM_024450856.1:c.2332C>A	XP_024306624.1:p.Gln778Lys
XM_024450857.1:c.2332C>A	XP_024306625.1:p.Gln778Lys
XM_024450858.1:c.2251C>A	XP_024306626.1:p.Gln751Lys
XM_024450859.1:c.2248C>A	XP_024306627.1:p.Gln750Lys
XM_024450860.1:c.2173C>A	XP_024306628.1:p.Gln725Lys
XM_024450861.1:c.2173C>A	XP_024306629.1:p.Gln725Lys
XM_024450862.1:c.2170C>A	XP_024306630.1:p.Gln724Lys
NM_018127.7:c.2455C>A MANE Select	NP_060597.4:p.Gln819Lys
NM_001165962.2:c.2335C>A	NP_001159434.1:p.Gln779Lys
NM_173717.2:c.2452C>A	NP_776065.1:p.Gln818Lys