Canonical Allele Identifier: CA398222385

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896331T>A (hg19) ; chr17:g.12993014T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993014T>A , CM000679.2:g.12993014T>A	GRCh38
NC_000017.10:g.12896331T>A , CM000679.1:g.12896331T>A	GRCh37
NC_000017.9:g.12837056T>A	NCBI36
NG_015808.1:g.30051A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2285A>T MANE Select	ENSP00000337445.4:p.Lys762Met
ENST00000338034.8:c.2285A>T	ENSP00000337445.4:p.Lys762Met
ENST00000395962.6:c.2228A>T	ENSP00000379291.1:p.Lys743Met
ENST00000426905.7:c.2165A>T	ENSP00000405223.3:p.Lys722Met
ENST00000465825.5:n.2172A>T
ENST00000480891.5:n.2114A>T
ENST00000484122.5:n.3115A>T
ENST00000487229.6:n.1831A>T
ENST00000584650.5:c.1684A>T
NM_001165962.1:c.2165A>T	NP_001159434.1:p.Lys722Met
NM_018127.6:c.2285A>T	NP_060597.4:p.Lys762Met
NM_173717.1:c.2282A>T	NP_776065.1:p.Lys761Met
XM_024450850.1:c.2444A>T	XP_024306618.1:p.Lys815Met
XM_024450851.1:c.2366A>T	XP_024306619.1:p.Lys789Met
XM_024450852.1:c.2363A>T	XP_024306620.1:p.Lys788Met
XM_024450853.1:c.2360A>T	XP_024306621.1:p.Lys787Met
XM_024450854.1:c.2324A>T	XP_024306622.1:p.Lys775Met
XM_024450855.1:c.2243A>T	XP_024306623.1:p.Lys748Met
XM_024450856.1:c.2162A>T	XP_024306624.1:p.Lys721Met
XM_024450857.1:c.2162A>T	XP_024306625.1:p.Lys721Met
XM_024450858.1:c.2081A>T	XP_024306626.1:p.Lys694Met
XM_024450859.1:c.2078A>T	XP_024306627.1:p.Lys693Met
XM_024450860.1:c.2003A>T	XP_024306628.1:p.Lys668Met
XM_024450861.1:c.2003A>T	XP_024306629.1:p.Lys668Met
XM_024450862.1:c.2000A>T	XP_024306630.1:p.Lys667Met
NM_018127.7:c.2285A>T MANE Select	NP_060597.4:p.Lys762Met
NM_001165962.2:c.2165A>T	NP_001159434.1:p.Lys722Met
NM_173717.2:c.2282A>T	NP_776065.1:p.Lys761Met