Canonical Allele Identifier: CA398222126

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896197C>G (hg19) ; chr17:g.12992880C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992880C>G , CM000679.2:g.12992880C>G	GRCh38
NC_000017.10:g.12896197C>G , CM000679.1:g.12896197C>G	GRCh37
NC_000017.9:g.12836922C>G	NCBI36
NG_015808.1:g.30185G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2419G>C MANE Select	ENSP00000337445.4:p.Glu807Gln
ENST00000338034.8:c.2419G>C	ENSP00000337445.4:p.Glu807Gln
ENST00000395962.6:c.2362G>C	ENSP00000379291.1:p.Glu788Gln
ENST00000426905.7:c.2299G>C	ENSP00000405223.3:p.Glu767Gln
ENST00000465825.5:n.2306G>C
ENST00000480891.5:n.2248G>C
ENST00000484122.5:n.3249G>C
ENST00000487229.6:n.1965G>C
ENST00000584650.5:c.1818G>C
NM_001165962.1:c.2299G>C	NP_001159434.1:p.Glu767Gln
NM_018127.6:c.2419G>C	NP_060597.4:p.Glu807Gln
NM_173717.1:c.2416G>C	NP_776065.1:p.Glu806Gln
XM_024450850.1:c.2578G>C	XP_024306618.1:p.Glu860Gln
XM_024450851.1:c.2500G>C	XP_024306619.1:p.Glu834Gln
XM_024450852.1:c.2497G>C	XP_024306620.1:p.Glu833Gln
XM_024450853.1:c.2494G>C	XP_024306621.1:p.Glu832Gln
XM_024450854.1:c.2458G>C	XP_024306622.1:p.Glu820Gln
XM_024450855.1:c.2377G>C	XP_024306623.1:p.Glu793Gln
XM_024450856.1:c.2296G>C	XP_024306624.1:p.Glu766Gln
XM_024450857.1:c.2296G>C	XP_024306625.1:p.Glu766Gln
XM_024450858.1:c.2215G>C	XP_024306626.1:p.Glu739Gln
XM_024450859.1:c.2212G>C	XP_024306627.1:p.Glu738Gln
XM_024450860.1:c.2137G>C	XP_024306628.1:p.Glu713Gln
XM_024450861.1:c.2137G>C	XP_024306629.1:p.Glu713Gln
XM_024450862.1:c.2134G>C	XP_024306630.1:p.Glu712Gln
NM_018127.7:c.2419G>C MANE Select	NP_060597.4:p.Glu807Gln
NM_001165962.2:c.2299G>C	NP_001159434.1:p.Glu767Gln
NM_173717.2:c.2416G>C	NP_776065.1:p.Glu806Gln