Canonical Allele Identifier: CA398222388

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993015-T-C
• MyVariant Identifiers: chr17:g.12896332T>C (hg19) ; chr17:g.12993015T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993015T>C , CM000679.2:g.12993015T>C	GRCh38
NC_000017.10:g.12896332T>C , CM000679.1:g.12896332T>C	GRCh37
NC_000017.9:g.12837057T>C	NCBI36
NG_015808.1:g.30050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2284A>G MANE Select	ENSP00000337445.4:p.Lys762Glu
ENST00000338034.8:c.2284A>G	ENSP00000337445.4:p.Lys762Glu
ENST00000395962.6:c.2227A>G	ENSP00000379291.1:p.Lys743Glu
ENST00000426905.7:c.2164A>G	ENSP00000405223.3:p.Lys722Glu
ENST00000465825.5:n.2171A>G
ENST00000480891.5:n.2113A>G
ENST00000484122.5:n.3114A>G
ENST00000487229.6:n.1830A>G
ENST00000584650.5:c.1683A>G
NM_001165962.1:c.2164A>G	NP_001159434.1:p.Lys722Glu
NM_018127.6:c.2284A>G	NP_060597.4:p.Lys762Glu
NM_173717.1:c.2281A>G	NP_776065.1:p.Lys761Glu
XM_024450850.1:c.2443A>G	XP_024306618.1:p.Lys815Glu
XM_024450851.1:c.2365A>G	XP_024306619.1:p.Lys789Glu
XM_024450852.1:c.2362A>G	XP_024306620.1:p.Lys788Glu
XM_024450853.1:c.2359A>G	XP_024306621.1:p.Lys787Glu
XM_024450854.1:c.2323A>G	XP_024306622.1:p.Lys775Glu
XM_024450855.1:c.2242A>G	XP_024306623.1:p.Lys748Glu
XM_024450856.1:c.2161A>G	XP_024306624.1:p.Lys721Glu
XM_024450857.1:c.2161A>G	XP_024306625.1:p.Lys721Glu
XM_024450858.1:c.2080A>G	XP_024306626.1:p.Lys694Glu
XM_024450859.1:c.2077A>G	XP_024306627.1:p.Lys693Glu
XM_024450860.1:c.2002A>G	XP_024306628.1:p.Lys668Glu
XM_024450861.1:c.2002A>G	XP_024306629.1:p.Lys668Glu
XM_024450862.1:c.1999A>G	XP_024306630.1:p.Lys667Glu
NM_018127.7:c.2284A>G MANE Select	NP_060597.4:p.Lys762Glu
NM_001165962.2:c.2164A>G	NP_001159434.1:p.Lys722Glu
NM_173717.2:c.2281A>G	NP_776065.1:p.Lys761Glu