Canonical Allele Identifier: CA398222376

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896326T>G (hg19) ; chr17:g.12993009T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993009T>G , CM000679.2:g.12993009T>G	GRCh38
NC_000017.10:g.12896326T>G , CM000679.1:g.12896326T>G	GRCh37
NC_000017.9:g.12837051T>G	NCBI36
NG_015808.1:g.30056A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2290A>C MANE Select	ENSP00000337445.4:p.Ile764Leu
ENST00000338034.8:c.2290A>C	ENSP00000337445.4:p.Ile764Leu
ENST00000395962.6:c.2233A>C	ENSP00000379291.1:p.Ile745Leu
ENST00000426905.7:c.2170A>C	ENSP00000405223.3:p.Ile724Leu
ENST00000465825.5:n.2177A>C
ENST00000480891.5:n.2119A>C
ENST00000484122.5:n.3120A>C
ENST00000487229.6:n.1836A>C
ENST00000584650.5:c.1689A>C
NM_001165962.1:c.2170A>C	NP_001159434.1:p.Ile724Leu
NM_018127.6:c.2290A>C	NP_060597.4:p.Ile764Leu
NM_173717.1:c.2287A>C	NP_776065.1:p.Ile763Leu
XM_024450850.1:c.2449A>C	XP_024306618.1:p.Ile817Leu
XM_024450851.1:c.2371A>C	XP_024306619.1:p.Ile791Leu
XM_024450852.1:c.2368A>C	XP_024306620.1:p.Ile790Leu
XM_024450853.1:c.2365A>C	XP_024306621.1:p.Ile789Leu
XM_024450854.1:c.2329A>C	XP_024306622.1:p.Ile777Leu
XM_024450855.1:c.2248A>C	XP_024306623.1:p.Ile750Leu
XM_024450856.1:c.2167A>C	XP_024306624.1:p.Ile723Leu
XM_024450857.1:c.2167A>C	XP_024306625.1:p.Ile723Leu
XM_024450858.1:c.2086A>C	XP_024306626.1:p.Ile696Leu
XM_024450859.1:c.2083A>C	XP_024306627.1:p.Ile695Leu
XM_024450860.1:c.2008A>C	XP_024306628.1:p.Ile670Leu
XM_024450861.1:c.2008A>C	XP_024306629.1:p.Ile670Leu
XM_024450862.1:c.2005A>C	XP_024306630.1:p.Ile669Leu
NM_018127.7:c.2290A>C MANE Select	NP_060597.4:p.Ile764Leu
NM_001165962.2:c.2170A>C	NP_001159434.1:p.Ile724Leu
NM_173717.2:c.2287A>C	NP_776065.1:p.Ile763Leu