Canonical Allele Identifier: CA398222237

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896259T>G (hg19) ; chr17:g.12992942T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992942T>G , CM000679.2:g.12992942T>G	GRCh38
NC_000017.10:g.12896259T>G , CM000679.1:g.12896259T>G	GRCh37
NC_000017.9:g.12836984T>G	NCBI36
NG_015808.1:g.30123A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2357A>C MANE Select	ENSP00000337445.4:p.Glu786Ala
ENST00000338034.8:c.2357A>C	ENSP00000337445.4:p.Glu786Ala
ENST00000395962.6:c.2300A>C	ENSP00000379291.1:p.Glu767Ala
ENST00000426905.7:c.2237A>C	ENSP00000405223.3:p.Glu746Ala
ENST00000465825.5:n.2244A>C
ENST00000480891.5:n.2186A>C
ENST00000484122.5:n.3187A>C
ENST00000487229.6:n.1903A>C
ENST00000584650.5:c.1756A>C
NM_001165962.1:c.2237A>C	NP_001159434.1:p.Glu746Ala
NM_018127.6:c.2357A>C	NP_060597.4:p.Glu786Ala
NM_173717.1:c.2354A>C	NP_776065.1:p.Glu785Ala
XM_024450850.1:c.2516A>C	XP_024306618.1:p.Glu839Ala
XM_024450851.1:c.2438A>C	XP_024306619.1:p.Glu813Ala
XM_024450852.1:c.2435A>C	XP_024306620.1:p.Glu812Ala
XM_024450853.1:c.2432A>C	XP_024306621.1:p.Glu811Ala
XM_024450854.1:c.2396A>C	XP_024306622.1:p.Glu799Ala
XM_024450855.1:c.2315A>C	XP_024306623.1:p.Glu772Ala
XM_024450856.1:c.2234A>C	XP_024306624.1:p.Glu745Ala
XM_024450857.1:c.2234A>C	XP_024306625.1:p.Glu745Ala
XM_024450858.1:c.2153A>C	XP_024306626.1:p.Glu718Ala
XM_024450859.1:c.2150A>C	XP_024306627.1:p.Glu717Ala
XM_024450860.1:c.2075A>C	XP_024306628.1:p.Glu692Ala
XM_024450861.1:c.2075A>C	XP_024306629.1:p.Glu692Ala
XM_024450862.1:c.2072A>C	XP_024306630.1:p.Glu691Ala
NM_018127.7:c.2357A>C MANE Select	NP_060597.4:p.Glu786Ala
NM_001165962.2:c.2237A>C	NP_001159434.1:p.Glu746Ala
NM_173717.2:c.2354A>C	NP_776065.1:p.Glu785Ala