Canonical Allele Identifier: CA398222008

Gene: ELAC2

Linked Data

• MyVariant Identifiers: chr17:g.12896143C>T (hg19) ; chr17:g.12992826C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12992826C>T , CM000679.2:g.12992826C>T	GRCh38
NC_000017.10:g.12896143C>T , CM000679.1:g.12896143C>T	GRCh37
NC_000017.9:g.12836868C>T	NCBI36
NG_015808.1:g.30239G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2473G>A MANE Select	ENSP00000337445.4:p.Ala825Thr
ENST00000338034.8:c.2473G>A	ENSP00000337445.4:p.Ala825Thr
ENST00000395962.6:c.2416G>A	ENSP00000379291.1:p.Ala806Thr
ENST00000426905.7:c.2353G>A	ENSP00000405223.3:p.Ala785Thr
ENST00000465825.5:n.2360G>A
ENST00000480891.5:n.2302G>A
ENST00000484122.5:n.3303G>A
ENST00000487229.6:n.2019G>A
ENST00000584650.5:c.1872G>A
NM_001165962.1:c.2353G>A	NP_001159434.1:p.Ala785Thr
NM_018127.6:c.2473G>A	NP_060597.4:p.Ala825Thr
NM_173717.1:c.2470G>A	NP_776065.1:p.Ala824Thr
XM_024450850.1:c.2632G>A	XP_024306618.1:p.Ala878Thr
XM_024450851.1:c.2554G>A	XP_024306619.1:p.Ala852Thr
XM_024450852.1:c.2551G>A	XP_024306620.1:p.Ala851Thr
XM_024450853.1:c.2548G>A	XP_024306621.1:p.Ala850Thr
XM_024450854.1:c.2512G>A	XP_024306622.1:p.Ala838Thr
XM_024450855.1:c.2431G>A	XP_024306623.1:p.Ala811Thr
XM_024450856.1:c.2350G>A	XP_024306624.1:p.Ala784Thr
XM_024450857.1:c.2350G>A	XP_024306625.1:p.Ala784Thr
XM_024450858.1:c.2269G>A	XP_024306626.1:p.Ala757Thr
XM_024450859.1:c.2266G>A	XP_024306627.1:p.Ala756Thr
XM_024450860.1:c.2191G>A	XP_024306628.1:p.Ala731Thr
XM_024450861.1:c.2191G>A	XP_024306629.1:p.Ala731Thr
XM_024450862.1:c.2188G>A	XP_024306630.1:p.Ala730Thr
NM_018127.7:c.2473G>A MANE Select	NP_060597.4:p.Ala825Thr
NM_001165962.2:c.2353G>A	NP_001159434.1:p.Ala785Thr
NM_173717.2:c.2470G>A	NP_776065.1:p.Ala824Thr