Canonical Allele Identifier: CA498009676

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896315C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992998C>T , CM000679.2:g.12992998C>T	GRCh38
NC_000017.10:g.12896315C>T , CM000679.1:g.12896315C>T	GRCh37
NC_000017.9:g.12837040C>T	NCBI36
NG_015808.1:g.30067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2301G>A MANE Select	ENSP00000337445.4:p.Leu767=
ENST00000338034.8:c.2301G>A	ENSP00000337445.4:p.Leu767=
ENST00000395962.6:c.2244G>A	ENSP00000379291.1:p.Leu748=
ENST00000426905.7:c.2181G>A	ENSP00000405223.3:p.Leu727=
ENST00000465825.5:n.2188G>A
ENST00000480891.5:n.2130G>A
ENST00000484122.5:n.3131G>A
ENST00000487229.6:n.1847G>A
ENST00000584650.5:c.1700G>A
NM_001165962.1:c.2181G>A	NP_001159434.1:p.Leu727=
NM_018127.6:c.2301G>A	NP_060597.4:p.Leu767=
NM_173717.1:c.2298G>A	NP_776065.1:p.Leu766=
XM_024450850.1:c.2460G>A	XP_024306618.1:p.Leu820=
XM_024450851.1:c.2382G>A	XP_024306619.1:p.Leu794=
XM_024450852.1:c.2379G>A	XP_024306620.1:p.Leu793=
XM_024450853.1:c.2376G>A	XP_024306621.1:p.Leu792=
XM_024450854.1:c.2340G>A	XP_024306622.1:p.Leu780=
XM_024450855.1:c.2259G>A	XP_024306623.1:p.Leu753=
XM_024450856.1:c.2178G>A	XP_024306624.1:p.Leu726=
XM_024450857.1:c.2178G>A	XP_024306625.1:p.Leu726=
XM_024450858.1:c.2097G>A	XP_024306626.1:p.Leu699=
XM_024450859.1:c.2094G>A	XP_024306627.1:p.Leu698=
XM_024450860.1:c.2019G>A	XP_024306628.1:p.Leu673=
XM_024450861.1:c.2019G>A	XP_024306629.1:p.Leu673=
XM_024450862.1:c.2016G>A	XP_024306630.1:p.Leu672=
NM_018127.7:c.2301G>A MANE Select	NP_060597.4:p.Leu767=
NM_001165962.2:c.2181G>A	NP_001159434.1:p.Leu727=
NM_173717.2:c.2298G>A	NP_776065.1:p.Leu766=