Canonical Allele Identifier: CA498009686

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896324A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993007A>T , CM000679.2:g.12993007A>T	GRCh38
NC_000017.10:g.12896324A>T , CM000679.1:g.12896324A>T	GRCh37
NC_000017.9:g.12837049A>T	NCBI36
NG_015808.1:g.30058T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2292T>A MANE Select	ENSP00000337445.4:p.Ile764=
ENST00000338034.8:c.2292T>A	ENSP00000337445.4:p.Ile764=
ENST00000395962.6:c.2235T>A	ENSP00000379291.1:p.Ile745=
ENST00000426905.7:c.2172T>A	ENSP00000405223.3:p.Ile724=
ENST00000465825.5:n.2179T>A
ENST00000480891.5:n.2121T>A
ENST00000484122.5:n.3122T>A
ENST00000487229.6:n.1838T>A
ENST00000584650.5:c.1691T>A
NM_001165962.1:c.2172T>A	NP_001159434.1:p.Ile724=
NM_018127.6:c.2292T>A	NP_060597.4:p.Ile764=
NM_173717.1:c.2289T>A	NP_776065.1:p.Ile763=
XM_024450850.1:c.2451T>A	XP_024306618.1:p.Ile817=
XM_024450851.1:c.2373T>A	XP_024306619.1:p.Ile791=
XM_024450852.1:c.2370T>A	XP_024306620.1:p.Ile790=
XM_024450853.1:c.2367T>A	XP_024306621.1:p.Ile789=
XM_024450854.1:c.2331T>A	XP_024306622.1:p.Ile777=
XM_024450855.1:c.2250T>A	XP_024306623.1:p.Ile750=
XM_024450856.1:c.2169T>A	XP_024306624.1:p.Ile723=
XM_024450857.1:c.2169T>A	XP_024306625.1:p.Ile723=
XM_024450858.1:c.2088T>A	XP_024306626.1:p.Ile696=
XM_024450859.1:c.2085T>A	XP_024306627.1:p.Ile695=
XM_024450860.1:c.2010T>A	XP_024306628.1:p.Ile670=
XM_024450861.1:c.2010T>A	XP_024306629.1:p.Ile670=
XM_024450862.1:c.2007T>A	XP_024306630.1:p.Ile669=
NM_018127.7:c.2292T>A MANE Select	NP_060597.4:p.Ile764=
NM_001165962.2:c.2172T>A	NP_001159434.1:p.Ile724=
NM_173717.2:c.2289T>A	NP_776065.1:p.Ile763=