Canonical Allele Identifier: CA398222374

Gene: ELAC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2291T>C MANE Select	ENSP00000337445.4:p.Ile764Thr
ENST00000338034.8:c.2291T>C	ENSP00000337445.4:p.Ile764Thr
ENST00000395962.6:c.2234T>C	ENSP00000379291.1:p.Ile745Thr
ENST00000426905.7:c.2171T>C	ENSP00000405223.3:p.Ile724Thr
ENST00000465825.5:n.2178T>C
ENST00000480891.5:n.2120T>C
ENST00000484122.5:n.3121T>C
ENST00000487229.6:n.1837T>C
ENST00000584650.5:c.1690T>C
NM_001165962.1:c.2171T>C	NP_001159434.1:p.Ile724Thr
NM_018127.6:c.2291T>C	NP_060597.4:p.Ile764Thr
NM_173717.1:c.2288T>C	NP_776065.1:p.Ile763Thr
XM_024450850.1:c.2450T>C	XP_024306618.1:p.Ile817Thr
XM_024450851.1:c.2372T>C	XP_024306619.1:p.Ile791Thr
XM_024450852.1:c.2369T>C	XP_024306620.1:p.Ile790Thr
XM_024450853.1:c.2366T>C	XP_024306621.1:p.Ile789Thr
XM_024450854.1:c.2330T>C	XP_024306622.1:p.Ile777Thr
XM_024450855.1:c.2249T>C	XP_024306623.1:p.Ile750Thr
XM_024450856.1:c.2168T>C	XP_024306624.1:p.Ile723Thr
XM_024450857.1:c.2168T>C	XP_024306625.1:p.Ile723Thr
XM_024450858.1:c.2087T>C	XP_024306626.1:p.Ile696Thr
XM_024450859.1:c.2084T>C	XP_024306627.1:p.Ile695Thr
XM_024450860.1:c.2009T>C	XP_024306628.1:p.Ile670Thr
XM_024450861.1:c.2009T>C	XP_024306629.1:p.Ile670Thr
XM_024450862.1:c.2006T>C	XP_024306630.1:p.Ile669Thr
NM_018127.7:c.2291T>C MANE Select	NP_060597.4:p.Ile764Thr
NM_001165962.2:c.2171T>C	NP_001159434.1:p.Ile724Thr
NM_173717.2:c.2288T>C	NP_776065.1:p.Ile763Thr