Canonical Allele Identifier: CA498009647

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12992956-G-T
• MyVariant Identifiers: chr17:g.12896273G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992956G>T , CM000679.2:g.12992956G>T	GRCh38
NC_000017.10:g.12896273G>T , CM000679.1:g.12896273G>T	GRCh37
NC_000017.9:g.12836998G>T	NCBI36
NG_015808.1:g.30109C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2343C>A MANE Select	ENSP00000337445.4:p.Arg781=
ENST00000338034.8:c.2343C>A	ENSP00000337445.4:p.Arg781=
ENST00000395962.6:c.2286C>A	ENSP00000379291.1:p.Arg762=
ENST00000426905.7:c.2223C>A	ENSP00000405223.3:p.Arg741=
ENST00000465825.5:n.2230C>A
ENST00000480891.5:n.2172C>A
ENST00000484122.5:n.3173C>A
ENST00000487229.6:n.1889C>A
ENST00000584650.5:c.1742C>A
NM_001165962.1:c.2223C>A	NP_001159434.1:p.Arg741=
NM_018127.6:c.2343C>A	NP_060597.4:p.Arg781=
NM_173717.1:c.2340C>A	NP_776065.1:p.Arg780=
XM_024450850.1:c.2502C>A	XP_024306618.1:p.Arg834=
XM_024450851.1:c.2424C>A	XP_024306619.1:p.Arg808=
XM_024450852.1:c.2421C>A	XP_024306620.1:p.Arg807=
XM_024450853.1:c.2418C>A	XP_024306621.1:p.Arg806=
XM_024450854.1:c.2382C>A	XP_024306622.1:p.Arg794=
XM_024450855.1:c.2301C>A	XP_024306623.1:p.Arg767=
XM_024450856.1:c.2220C>A	XP_024306624.1:p.Arg740=
XM_024450857.1:c.2220C>A	XP_024306625.1:p.Arg740=
XM_024450858.1:c.2139C>A	XP_024306626.1:p.Arg713=
XM_024450859.1:c.2136C>A	XP_024306627.1:p.Arg712=
XM_024450860.1:c.2061C>A	XP_024306628.1:p.Arg687=
XM_024450861.1:c.2061C>A	XP_024306629.1:p.Arg687=
XM_024450862.1:c.2058C>A	XP_024306630.1:p.Arg686=
NM_018127.7:c.2343C>A MANE Select	NP_060597.4:p.Arg781=
NM_001165962.2:c.2223C>A	NP_001159434.1:p.Arg741=
NM_173717.2:c.2340C>A	NP_776065.1:p.Arg780=