Canonical Allele Identifier: CA398222265

Gene: ELAC2

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2342G>C MANE Select	ENSP00000337445.4:p.Arg781Pro
ENST00000338034.8:c.2342G>C	ENSP00000337445.4:p.Arg781Pro
ENST00000395962.6:c.2285G>C	ENSP00000379291.1:p.Arg762Pro
ENST00000426905.7:c.2222G>C	ENSP00000405223.3:p.Arg741Pro
ENST00000465825.5:n.2229G>C
ENST00000480891.5:n.2171G>C
ENST00000484122.5:n.3172G>C
ENST00000487229.6:n.1888G>C
ENST00000584650.5:c.1741G>C
NM_001165962.1:c.2222G>C	NP_001159434.1:p.Arg741Pro
NM_018127.6:c.2342G>C	NP_060597.4:p.Arg781Pro
NM_173717.1:c.2339G>C	NP_776065.1:p.Arg780Pro
XM_024450850.1:c.2501G>C	XP_024306618.1:p.Arg834Pro
XM_024450851.1:c.2423G>C	XP_024306619.1:p.Arg808Pro
XM_024450852.1:c.2420G>C	XP_024306620.1:p.Arg807Pro
XM_024450853.1:c.2417G>C	XP_024306621.1:p.Arg806Pro
XM_024450854.1:c.2381G>C	XP_024306622.1:p.Arg794Pro
XM_024450855.1:c.2300G>C	XP_024306623.1:p.Arg767Pro
XM_024450856.1:c.2219G>C	XP_024306624.1:p.Arg740Pro
XM_024450857.1:c.2219G>C	XP_024306625.1:p.Arg740Pro
XM_024450858.1:c.2138G>C	XP_024306626.1:p.Arg713Pro
XM_024450859.1:c.2135G>C	XP_024306627.1:p.Arg712Pro
XM_024450860.1:c.2060G>C	XP_024306628.1:p.Arg687Pro
XM_024450861.1:c.2060G>C	XP_024306629.1:p.Arg687Pro
XM_024450862.1:c.2057G>C	XP_024306630.1:p.Arg686Pro
NM_018127.7:c.2342G>C MANE Select	NP_060597.4:p.Arg781Pro
NM_001165962.2:c.2222G>C	NP_001159434.1:p.Arg741Pro
NM_173717.2:c.2339G>C	NP_776065.1:p.Arg780Pro