Canonical Allele Identifier: CA398222428

Gene: ELAC2

Linked Data

• gnomAD v4: 17-12993033-C-T
• MyVariant Identifiers: chr17:g.12896350C>T (hg19) ; chr17:g.12993033C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.12993033C>T , CM000679.2:g.12993033C>T	GRCh38
NC_000017.10:g.12896350C>T , CM000679.1:g.12896350C>T	GRCh37
NC_000017.9:g.12837075C>T	NCBI36
NG_015808.1:g.30032G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338034.9:c.2266G>A MANE Select	ENSP00000337445.4:p.Asp756Asn
ENST00000338034.8:c.2266G>A	ENSP00000337445.4:p.Asp756Asn
ENST00000395962.6:c.2209G>A	ENSP00000379291.1:p.Asp737Asn
ENST00000426905.7:c.2146G>A	ENSP00000405223.3:p.Asp716Asn
ENST00000465825.5:n.2153G>A
ENST00000480891.5:n.2095G>A
ENST00000484122.5:n.3096G>A
ENST00000487229.6:n.1812G>A
ENST00000584650.5:c.1665G>A
NM_001165962.1:c.2146G>A	NP_001159434.1:p.Asp716Asn
NM_018127.6:c.2266G>A	NP_060597.4:p.Asp756Asn
NM_173717.1:c.2263G>A	NP_776065.1:p.Asp755Asn
XM_024450850.1:c.2425G>A	XP_024306618.1:p.Asp809Asn
XM_024450851.1:c.2347G>A	XP_024306619.1:p.Asp783Asn
XM_024450852.1:c.2344G>A	XP_024306620.1:p.Asp782Asn
XM_024450853.1:c.2341G>A	XP_024306621.1:p.Asp781Asn
XM_024450854.1:c.2305G>A	XP_024306622.1:p.Asp769Asn
XM_024450855.1:c.2224G>A	XP_024306623.1:p.Asp742Asn
XM_024450856.1:c.2143G>A	XP_024306624.1:p.Asp715Asn
XM_024450857.1:c.2143G>A	XP_024306625.1:p.Asp715Asn
XM_024450858.1:c.2062G>A	XP_024306626.1:p.Asp688Asn
XM_024450859.1:c.2059G>A	XP_024306627.1:p.Asp687Asn
XM_024450860.1:c.1984G>A	XP_024306628.1:p.Asp662Asn
XM_024450861.1:c.1984G>A	XP_024306629.1:p.Asp662Asn
XM_024450862.1:c.1981G>A	XP_024306630.1:p.Asp661Asn
NM_018127.7:c.2266G>A MANE Select	NP_060597.4:p.Asp756Asn
NM_001165962.2:c.2146G>A	NP_001159434.1:p.Asp716Asn
NM_173717.2:c.2263G>A	NP_776065.1:p.Asp755Asn