Canonical Allele Identifier: CA398222121

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896195C>G (hg19) ; chr17:g.12992878C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992878C>G , CM000679.2:g.12992878C>G	GRCh38
NC_000017.10:g.12896195C>G , CM000679.1:g.12896195C>G	GRCh37
NC_000017.9:g.12836920C>G	NCBI36
NG_015808.1:g.30187G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2421G>C MANE Select	ENSP00000337445.4:p.Glu807Asp
ENST00000338034.8:c.2421G>C	ENSP00000337445.4:p.Glu807Asp
ENST00000395962.6:c.2364G>C	ENSP00000379291.1:p.Glu788Asp
ENST00000426905.7:c.2301G>C	ENSP00000405223.3:p.Glu767Asp
ENST00000465825.5:n.2308G>C
ENST00000480891.5:n.2250G>C
ENST00000484122.5:n.3251G>C
ENST00000487229.6:n.1967G>C
ENST00000584650.5:c.1820G>C
NM_001165962.1:c.2301G>C	NP_001159434.1:p.Glu767Asp
NM_018127.6:c.2421G>C	NP_060597.4:p.Glu807Asp
NM_173717.1:c.2418G>C	NP_776065.1:p.Glu806Asp
XM_024450850.1:c.2580G>C	XP_024306618.1:p.Glu860Asp
XM_024450851.1:c.2502G>C	XP_024306619.1:p.Glu834Asp
XM_024450852.1:c.2499G>C	XP_024306620.1:p.Glu833Asp
XM_024450853.1:c.2496G>C	XP_024306621.1:p.Glu832Asp
XM_024450854.1:c.2460G>C	XP_024306622.1:p.Glu820Asp
XM_024450855.1:c.2379G>C	XP_024306623.1:p.Glu793Asp
XM_024450856.1:c.2298G>C	XP_024306624.1:p.Glu766Asp
XM_024450857.1:c.2298G>C	XP_024306625.1:p.Glu766Asp
XM_024450858.1:c.2217G>C	XP_024306626.1:p.Glu739Asp
XM_024450859.1:c.2214G>C	XP_024306627.1:p.Glu738Asp
XM_024450860.1:c.2139G>C	XP_024306628.1:p.Glu713Asp
XM_024450861.1:c.2139G>C	XP_024306629.1:p.Glu713Asp
XM_024450862.1:c.2136G>C	XP_024306630.1:p.Glu712Asp
NM_018127.7:c.2421G>C MANE Select	NP_060597.4:p.Glu807Asp
NM_001165962.2:c.2301G>C	NP_001159434.1:p.Glu767Asp
NM_173717.2:c.2418G>C	NP_776065.1:p.Glu806Asp