Canonical Allele Identifier: CA398222373

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896325A>T (hg19) ; chr17:g.12993008A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993008A>T , CM000679.2:g.12993008A>T	GRCh38
NC_000017.10:g.12896325A>T , CM000679.1:g.12896325A>T	GRCh37
NC_000017.9:g.12837050A>T	NCBI36
NG_015808.1:g.30057T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2291T>A MANE Select	ENSP00000337445.4:p.Ile764Asn
ENST00000338034.8:c.2291T>A	ENSP00000337445.4:p.Ile764Asn
ENST00000395962.6:c.2234T>A	ENSP00000379291.1:p.Ile745Asn
ENST00000426905.7:c.2171T>A	ENSP00000405223.3:p.Ile724Asn
ENST00000465825.5:n.2178T>A
ENST00000480891.5:n.2120T>A
ENST00000484122.5:n.3121T>A
ENST00000487229.6:n.1837T>A
ENST00000584650.5:c.1690T>A
NM_001165962.1:c.2171T>A	NP_001159434.1:p.Ile724Asn
NM_018127.6:c.2291T>A	NP_060597.4:p.Ile764Asn
NM_173717.1:c.2288T>A	NP_776065.1:p.Ile763Asn
XM_024450850.1:c.2450T>A	XP_024306618.1:p.Ile817Asn
XM_024450851.1:c.2372T>A	XP_024306619.1:p.Ile791Asn
XM_024450852.1:c.2369T>A	XP_024306620.1:p.Ile790Asn
XM_024450853.1:c.2366T>A	XP_024306621.1:p.Ile789Asn
XM_024450854.1:c.2330T>A	XP_024306622.1:p.Ile777Asn
XM_024450855.1:c.2249T>A	XP_024306623.1:p.Ile750Asn
XM_024450856.1:c.2168T>A	XP_024306624.1:p.Ile723Asn
XM_024450857.1:c.2168T>A	XP_024306625.1:p.Ile723Asn
XM_024450858.1:c.2087T>A	XP_024306626.1:p.Ile696Asn
XM_024450859.1:c.2084T>A	XP_024306627.1:p.Ile695Asn
XM_024450860.1:c.2009T>A	XP_024306628.1:p.Ile670Asn
XM_024450861.1:c.2009T>A	XP_024306629.1:p.Ile670Asn
XM_024450862.1:c.2006T>A	XP_024306630.1:p.Ile669Asn
NM_018127.7:c.2291T>A MANE Select	NP_060597.4:p.Ile764Asn
NM_001165962.2:c.2171T>A	NP_001159434.1:p.Ile724Asn
NM_173717.2:c.2288T>A	NP_776065.1:p.Ile763Asn