Canonical Allele Identifier: CA398222123

Gene: ELAC2

Linked Data

• dbSNP Id: rs2143539352
• MyVariant Identifiers: chr17:g.12896196T>C (hg19) ; chr17:g.12992879T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992879T>C , CM000679.2:g.12992879T>C	GRCh38
NC_000017.10:g.12896196T>C , CM000679.1:g.12896196T>C	GRCh37
NC_000017.9:g.12836921T>C	NCBI36
NG_015808.1:g.30186A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2420A>G MANE Select	ENSP00000337445.4:p.Glu807Gly
ENST00000338034.8:c.2420A>G	ENSP00000337445.4:p.Glu807Gly
ENST00000395962.6:c.2363A>G	ENSP00000379291.1:p.Glu788Gly
ENST00000426905.7:c.2300A>G	ENSP00000405223.3:p.Glu767Gly
ENST00000465825.5:n.2307A>G
ENST00000480891.5:n.2249A>G
ENST00000484122.5:n.3250A>G
ENST00000487229.6:n.1966A>G
ENST00000584650.5:c.1819A>G
NM_001165962.1:c.2300A>G	NP_001159434.1:p.Glu767Gly
NM_018127.6:c.2420A>G	NP_060597.4:p.Glu807Gly
NM_173717.1:c.2417A>G	NP_776065.1:p.Glu806Gly
XM_024450850.1:c.2579A>G	XP_024306618.1:p.Glu860Gly
XM_024450851.1:c.2501A>G	XP_024306619.1:p.Glu834Gly
XM_024450852.1:c.2498A>G	XP_024306620.1:p.Glu833Gly
XM_024450853.1:c.2495A>G	XP_024306621.1:p.Glu832Gly
XM_024450854.1:c.2459A>G	XP_024306622.1:p.Glu820Gly
XM_024450855.1:c.2378A>G	XP_024306623.1:p.Glu793Gly
XM_024450856.1:c.2297A>G	XP_024306624.1:p.Glu766Gly
XM_024450857.1:c.2297A>G	XP_024306625.1:p.Glu766Gly
XM_024450858.1:c.2216A>G	XP_024306626.1:p.Glu739Gly
XM_024450859.1:c.2213A>G	XP_024306627.1:p.Glu738Gly
XM_024450860.1:c.2138A>G	XP_024306628.1:p.Glu713Gly
XM_024450861.1:c.2138A>G	XP_024306629.1:p.Glu713Gly
XM_024450862.1:c.2135A>G	XP_024306630.1:p.Glu712Gly
NM_018127.7:c.2420A>G MANE Select	NP_060597.4:p.Glu807Gly
NM_001165962.2:c.2300A>G	NP_001159434.1:p.Glu767Gly
NM_173717.2:c.2417A>G	NP_776065.1:p.Glu806Gly