Canonical Allele Identifier: CA398222139

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896204C>G (hg19) ; chr17:g.12992887C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992887C>G , CM000679.2:g.12992887C>G	GRCh38
NC_000017.10:g.12896204C>G , CM000679.1:g.12896204C>G	GRCh37
NC_000017.9:g.12836929C>G	NCBI36
NG_015808.1:g.30178G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2412G>C MANE Select	ENSP00000337445.4:p.Glu804Asp
ENST00000338034.8:c.2412G>C	ENSP00000337445.4:p.Glu804Asp
ENST00000395962.6:c.2355G>C	ENSP00000379291.1:p.Glu785Asp
ENST00000426905.7:c.2292G>C	ENSP00000405223.3:p.Glu764Asp
ENST00000465825.5:n.2299G>C
ENST00000480891.5:n.2241G>C
ENST00000484122.5:n.3242G>C
ENST00000487229.6:n.1958G>C
ENST00000584650.5:c.1811G>C
NM_001165962.1:c.2292G>C	NP_001159434.1:p.Glu764Asp
NM_018127.6:c.2412G>C	NP_060597.4:p.Glu804Asp
NM_173717.1:c.2409G>C	NP_776065.1:p.Glu803Asp
XM_024450850.1:c.2571G>C	XP_024306618.1:p.Glu857Asp
XM_024450851.1:c.2493G>C	XP_024306619.1:p.Glu831Asp
XM_024450852.1:c.2490G>C	XP_024306620.1:p.Glu830Asp
XM_024450853.1:c.2487G>C	XP_024306621.1:p.Glu829Asp
XM_024450854.1:c.2451G>C	XP_024306622.1:p.Glu817Asp
XM_024450855.1:c.2370G>C	XP_024306623.1:p.Glu790Asp
XM_024450856.1:c.2289G>C	XP_024306624.1:p.Glu763Asp
XM_024450857.1:c.2289G>C	XP_024306625.1:p.Glu763Asp
XM_024450858.1:c.2208G>C	XP_024306626.1:p.Glu736Asp
XM_024450859.1:c.2205G>C	XP_024306627.1:p.Glu735Asp
XM_024450860.1:c.2130G>C	XP_024306628.1:p.Glu710Asp
XM_024450861.1:c.2130G>C	XP_024306629.1:p.Glu710Asp
XM_024450862.1:c.2127G>C	XP_024306630.1:p.Glu709Asp
NM_018127.7:c.2412G>C MANE Select	NP_060597.4:p.Glu804Asp
NM_001165962.2:c.2292G>C	NP_001159434.1:p.Glu764Asp
NM_173717.2:c.2409G>C	NP_776065.1:p.Glu803Asp