Canonical Allele Identifier: CA498009708

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896339T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993022T>C , CM000679.2:g.12993022T>C	GRCh38
NC_000017.10:g.12896339T>C , CM000679.1:g.12896339T>C	GRCh37
NC_000017.9:g.12837064T>C	NCBI36
NG_015808.1:g.30043A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2277A>G MANE Select	ENSP00000337445.4:p.Thr759=
ENST00000338034.8:c.2277A>G	ENSP00000337445.4:p.Thr759=
ENST00000395962.6:c.2220A>G	ENSP00000379291.1:p.Thr740=
ENST00000426905.7:c.2157A>G	ENSP00000405223.3:p.Thr719=
ENST00000465825.5:n.2164A>G
ENST00000480891.5:n.2106A>G
ENST00000484122.5:n.3107A>G
ENST00000487229.6:n.1823A>G
ENST00000584650.5:c.1676A>G
NM_001165962.1:c.2157A>G	NP_001159434.1:p.Thr719=
NM_018127.6:c.2277A>G	NP_060597.4:p.Thr759=
NM_173717.1:c.2274A>G	NP_776065.1:p.Thr758=
XM_024450850.1:c.2436A>G	XP_024306618.1:p.Thr812=
XM_024450851.1:c.2358A>G	XP_024306619.1:p.Thr786=
XM_024450852.1:c.2355A>G	XP_024306620.1:p.Thr785=
XM_024450853.1:c.2352A>G	XP_024306621.1:p.Thr784=
XM_024450854.1:c.2316A>G	XP_024306622.1:p.Thr772=
XM_024450855.1:c.2235A>G	XP_024306623.1:p.Thr745=
XM_024450856.1:c.2154A>G	XP_024306624.1:p.Thr718=
XM_024450857.1:c.2154A>G	XP_024306625.1:p.Thr718=
XM_024450858.1:c.2073A>G	XP_024306626.1:p.Thr691=
XM_024450859.1:c.2070A>G	XP_024306627.1:p.Thr690=
XM_024450860.1:c.1995A>G	XP_024306628.1:p.Thr665=
XM_024450861.1:c.1995A>G	XP_024306629.1:p.Thr665=
XM_024450862.1:c.1992A>G	XP_024306630.1:p.Thr664=
NM_018127.7:c.2277A>G MANE Select	NP_060597.4:p.Thr759=
NM_001165962.2:c.2157A>G	NP_001159434.1:p.Thr719=
NM_173717.2:c.2274A>G	NP_776065.1:p.Thr758=