Canonical Allele Identifier: CA398222098

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896185T>G (hg19) ; chr17:g.12992868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992868T>G , CM000679.2:g.12992868T>G	GRCh38
NC_000017.10:g.12896185T>G , CM000679.1:g.12896185T>G	GRCh37
NC_000017.9:g.12836910T>G	NCBI36
NG_015808.1:g.30197A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2431A>C MANE Select	ENSP00000337445.4:p.Lys811Gln
ENST00000338034.8:c.2431A>C	ENSP00000337445.4:p.Lys811Gln
ENST00000395962.6:c.2374A>C	ENSP00000379291.1:p.Lys792Gln
ENST00000426905.7:c.2311A>C	ENSP00000405223.3:p.Lys771Gln
ENST00000465825.5:n.2318A>C
ENST00000480891.5:n.2260A>C
ENST00000484122.5:n.3261A>C
ENST00000487229.6:n.1977A>C
ENST00000584650.5:c.1830A>C
NM_001165962.1:c.2311A>C	NP_001159434.1:p.Lys771Gln
NM_018127.6:c.2431A>C	NP_060597.4:p.Lys811Gln
NM_173717.1:c.2428A>C	NP_776065.1:p.Lys810Gln
XM_024450850.1:c.2590A>C	XP_024306618.1:p.Lys864Gln
XM_024450851.1:c.2512A>C	XP_024306619.1:p.Lys838Gln
XM_024450852.1:c.2509A>C	XP_024306620.1:p.Lys837Gln
XM_024450853.1:c.2506A>C	XP_024306621.1:p.Lys836Gln
XM_024450854.1:c.2470A>C	XP_024306622.1:p.Lys824Gln
XM_024450855.1:c.2389A>C	XP_024306623.1:p.Lys797Gln
XM_024450856.1:c.2308A>C	XP_024306624.1:p.Lys770Gln
XM_024450857.1:c.2308A>C	XP_024306625.1:p.Lys770Gln
XM_024450858.1:c.2227A>C	XP_024306626.1:p.Lys743Gln
XM_024450859.1:c.2224A>C	XP_024306627.1:p.Lys742Gln
XM_024450860.1:c.2149A>C	XP_024306628.1:p.Lys717Gln
XM_024450861.1:c.2149A>C	XP_024306629.1:p.Lys717Gln
XM_024450862.1:c.2146A>C	XP_024306630.1:p.Lys716Gln
NM_018127.7:c.2431A>C MANE Select	NP_060597.4:p.Lys811Gln
NM_001165962.2:c.2311A>C	NP_001159434.1:p.Lys771Gln
NM_173717.2:c.2428A>C	NP_776065.1:p.Lys810Gln