Canonical Allele Identifier: CA398222097

Gene: ELAC2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000338034.9:c.2431A>T MANE Select	ENSP00000337445.4:p.Lys811Ter
ENST00000338034.8:c.2431A>T	ENSP00000337445.4:p.Lys811Ter
ENST00000395962.6:c.2374A>T	ENSP00000379291.1:p.Lys792Ter
ENST00000426905.7:c.2311A>T	ENSP00000405223.3:p.Lys771Ter
ENST00000465825.5:n.2318A>T
ENST00000480891.5:n.2260A>T
ENST00000484122.5:n.3261A>T
ENST00000487229.6:n.1977A>T
ENST00000584650.5:c.1830A>T
NM_001165962.1:c.2311A>T	NP_001159434.1:p.Lys771Ter
NM_018127.6:c.2431A>T	NP_060597.4:p.Lys811Ter
NM_173717.1:c.2428A>T	NP_776065.1:p.Lys810Ter
XM_024450850.1:c.2590A>T	XP_024306618.1:p.Lys864Ter
XM_024450851.1:c.2512A>T	XP_024306619.1:p.Lys838Ter
XM_024450852.1:c.2509A>T	XP_024306620.1:p.Lys837Ter
XM_024450853.1:c.2506A>T	XP_024306621.1:p.Lys836Ter
XM_024450854.1:c.2470A>T	XP_024306622.1:p.Lys824Ter
XM_024450855.1:c.2389A>T	XP_024306623.1:p.Lys797Ter
XM_024450856.1:c.2308A>T	XP_024306624.1:p.Lys770Ter
XM_024450857.1:c.2308A>T	XP_024306625.1:p.Lys770Ter
XM_024450858.1:c.2227A>T	XP_024306626.1:p.Lys743Ter
XM_024450859.1:c.2224A>T	XP_024306627.1:p.Lys742Ter
XM_024450860.1:c.2149A>T	XP_024306628.1:p.Lys717Ter
XM_024450861.1:c.2149A>T	XP_024306629.1:p.Lys717Ter
XM_024450862.1:c.2146A>T	XP_024306630.1:p.Lys716Ter
NM_018127.7:c.2431A>T MANE Select	NP_060597.4:p.Lys811Ter
NM_001165962.2:c.2311A>T	NP_001159434.1:p.Lys771Ter
NM_173717.2:c.2428A>T	NP_776065.1:p.Lys810Ter