Canonical Allele Identifier: CA498009674

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992998-C-A
• MyVariant Identifiers: chr17:g.12896315C>A (hg19)

Genomic Alleles

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

Transcript Alleles

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