Canonical Allele Identifier: CA144833
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 66035
ClinVar RCV Id: RCV000056274
dbSNP Id: rs397515463
gnomAD v4: 17-12996647-G-A
MyVariant Identifiers: chr17:g.12899964G>A (hg19) chr17:g.12996647G>A (hg38)
PubMed: PMID:23849775
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12996647G>A , CM000679.2:g.12996647G>A GRCh38
NC_000017.10:g.12899964G>A , CM000679.1:g.12899964G>A GRCh37
NC_000017.9:g.12840689G>A NCBI36
NG_015808.1:g.26418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.1559C>T MANE Select ENSP00000337445.4:p.Thr520Ile
ENST00000338034.8:c.1559C>T ENSP00000337445.4:p.Thr520Ile
ENST00000395962.6:c.1502C>T ENSP00000379291.1:p.Thr501Ile
ENST00000426905.7:c.1439C>T ENSP00000405223.3:p.Thr480Ile
ENST00000465825.5:n.878C>T
ENST00000480891.5:n.1388C>T
ENST00000484122.5:n.1821C>T
ENST00000487229.6:n.1105C>T
ENST00000491478.5:n.136C>T
ENST00000492559.5:n.366C>T
ENST00000584650.5:c.958C>T
NM_001165962.1:c.1439C>T NP_001159434.1:p.Thr480Ile
NM_018127.6:c.1559C>T NP_060597.4:p.Thr520Ile
NM_173717.1:c.1556C>T NP_776065.1:p.Thr519Ile
XM_024450850.1:c.1640C>T XP_024306618.1:p.Thr547Ile
XM_024450851.1:c.1640C>T XP_024306619.1:p.Thr547Ile
XM_024450852.1:c.1559C>T XP_024306620.1:p.Thr520Ile
XM_024450853.1:c.1556C>T XP_024306621.1:p.Thr519Ile
XM_024450854.1:c.1520C>T XP_024306622.1:p.Thr507Ile
XM_024450855.1:c.1439C>T XP_024306623.1:p.Thr480Ile
XM_024450856.1:c.1358C>T XP_024306624.1:p.Thr453Ile
XM_024450857.1:c.1358C>T XP_024306625.1:p.Thr453Ile
XM_024450858.1:c.1277C>T XP_024306626.1:p.Thr426Ile
XM_024450859.1:c.1274C>T XP_024306627.1:p.Thr425Ile
XM_024450860.1:c.1277C>T XP_024306628.1:p.Thr426Ile
XM_024450861.1:c.1277C>T XP_024306629.1:p.Thr426Ile
XM_024450862.1:c.1274C>T XP_024306630.1:p.Thr425Ile
NM_018127.7:c.1559C>T MANE Select NP_060597.4:p.Thr520Ile
NM_001165962.2:c.1439C>T NP_001159434.1:p.Thr480Ile
NM_173717.2:c.1556C>T NP_776065.1:p.Thr519Ile
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