Canonical Allele Identifier: CA8401003

Gene: ELAC2

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12994869C>T , CM000679.2:g.12994869C>T	GRCh38
NC_000017.10:g.12898186C>T , CM000679.1:g.12898186C>T	GRCh37
NC_000017.9:g.12838911C>T	NCBI36
NG_015808.1:g.28196G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_018127.7:c.1924G>A MANE Select	NP_060597.4:p.Val642Met
ENST00000338034.9:c.1924G>A MANE Select	ENSP00000337445.4:p.Val642Met
NM_001165962.1:c.1804G>A	NP_001159434.1:p.Val602Met
NM_001165962.2:c.1804G>A	NP_001159434.1:p.Val602Met
NM_018127.6:c.1924G>A	NP_060597.4:p.Val642Met
NM_173717.1:c.1921G>A	NP_776065.1:p.Val641Met
NM_173717.2:c.1921G>A	NP_776065.1:p.Val641Met
ENST00000338034.8:c.1924G>A	ENSP00000337445.4:p.Val642Met
ENST00000395962.6:c.1867G>A	ENSP00000379291.1:p.Val623Met
ENST00000426905.7:c.1804G>A	ENSP00000405223.3:p.Val602Met
ENST00000465825.5:n.1811G>A
ENST00000480891.5:n.1753G>A
ENST00000484122.5:n.2754G>A
ENST00000487229.6:n.1470G>A
ENST00000491478.5:n.579G>A
ENST00000584650.5:c.1323G>A
XM_024450850.1:c.2083G>A	XP_024306618.1:p.Val695Met
XM_024450851.1:c.2005G>A	XP_024306619.1:p.Val669Met
XM_024450852.1:c.2002G>A	XP_024306620.1:p.Val668Met
XM_024450853.1:c.1999G>A	XP_024306621.1:p.Val667Met
XM_024450854.1:c.1963G>A	XP_024306622.1:p.Val655Met
XM_024450855.1:c.1882G>A	XP_024306623.1:p.Val628Met
XM_024450856.1:c.1801G>A	XP_024306624.1:p.Val601Met
XM_024450857.1:c.1801G>A	XP_024306625.1:p.Val601Met
XM_024450858.1:c.1720G>A	XP_024306626.1:p.Val574Met
XM_024450859.1:c.1717G>A	XP_024306627.1:p.Val573Met
XM_024450860.1:c.1642G>A	XP_024306628.1:p.Val548Met
XM_024450861.1:c.1642G>A	XP_024306629.1:p.Val548Met
XM_024450862.1:c.1639G>A	XP_024306630.1:p.Val547Met