Canonical Allele Identifier: CA398222264

Gene: ELAC2

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992957C>A , CM000679.2:g.12992957C>A	GRCh38
NC_000017.10:g.12896274C>A , CM000679.1:g.12896274C>A	GRCh37
NC_000017.9:g.12836999C>A	NCBI36
NG_015808.1:g.30108G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2342G>T MANE Select	ENSP00000337445.4:p.Arg781Leu
ENST00000338034.8:c.2342G>T	ENSP00000337445.4:p.Arg781Leu
ENST00000395962.6:c.2285G>T	ENSP00000379291.1:p.Arg762Leu
ENST00000426905.7:c.2222G>T	ENSP00000405223.3:p.Arg741Leu
ENST00000465825.5:n.2229G>T
ENST00000480891.5:n.2171G>T
ENST00000484122.5:n.3172G>T
ENST00000487229.6:n.1888G>T
ENST00000584650.5:c.1741G>T
NM_001165962.1:c.2222G>T	NP_001159434.1:p.Arg741Leu
NM_018127.6:c.2342G>T	NP_060597.4:p.Arg781Leu
NM_173717.1:c.2339G>T	NP_776065.1:p.Arg780Leu
XM_024450850.1:c.2501G>T	XP_024306618.1:p.Arg834Leu
XM_024450851.1:c.2423G>T	XP_024306619.1:p.Arg808Leu
XM_024450852.1:c.2420G>T	XP_024306620.1:p.Arg807Leu
XM_024450853.1:c.2417G>T	XP_024306621.1:p.Arg806Leu
XM_024450854.1:c.2381G>T	XP_024306622.1:p.Arg794Leu
XM_024450855.1:c.2300G>T	XP_024306623.1:p.Arg767Leu
XM_024450856.1:c.2219G>T	XP_024306624.1:p.Arg740Leu
XM_024450857.1:c.2219G>T	XP_024306625.1:p.Arg740Leu
XM_024450858.1:c.2138G>T	XP_024306626.1:p.Arg713Leu
XM_024450859.1:c.2135G>T	XP_024306627.1:p.Arg712Leu
XM_024450860.1:c.2060G>T	XP_024306628.1:p.Arg687Leu
XM_024450861.1:c.2060G>T	XP_024306629.1:p.Arg687Leu
XM_024450862.1:c.2057G>T	XP_024306630.1:p.Arg686Leu
NM_018127.7:c.2342G>T MANE Select	NP_060597.4:p.Arg781Leu
NM_001165962.2:c.2222G>T	NP_001159434.1:p.Arg741Leu
NM_173717.2:c.2339G>T	NP_776065.1:p.Arg780Leu