Canonical Allele Identifier: CA398222308
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1360775
ClinVar RCV Id: RCV001907182
dbSNP Id: rs1470895228

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992975A>T , CM000679.2:g.12992975A>T GRCh38
NC_000017.10:g.12896292A>T , CM000679.1:g.12896292A>T GRCh37
NC_000017.9:g.12837017A>T NCBI36
NG_015808.1:g.30090T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2324T>A MANE Select ENSP00000337445.4:p.Ile775Asn
ENST00000338034.8:c.2324T>A ENSP00000337445.4:p.Ile775Asn
ENST00000395962.6:c.2267T>A ENSP00000379291.1:p.Ile756Asn
ENST00000426905.7:c.2204T>A ENSP00000405223.3:p.Ile735Asn
ENST00000465825.5:n.2211T>A
ENST00000480891.5:n.2153T>A
ENST00000484122.5:n.3154T>A
ENST00000487229.6:n.1870T>A
ENST00000584650.5:c.1723T>A
NM_001165962.1:c.2204T>A NP_001159434.1:p.Ile735Asn
NM_018127.6:c.2324T>A NP_060597.4:p.Ile775Asn
NM_173717.1:c.2321T>A NP_776065.1:p.Ile774Asn
XM_024450850.1:c.2483T>A XP_024306618.1:p.Ile828Asn
XM_024450851.1:c.2405T>A XP_024306619.1:p.Ile802Asn
XM_024450852.1:c.2402T>A XP_024306620.1:p.Ile801Asn
XM_024450853.1:c.2399T>A XP_024306621.1:p.Ile800Asn
XM_024450854.1:c.2363T>A XP_024306622.1:p.Ile788Asn
XM_024450855.1:c.2282T>A XP_024306623.1:p.Ile761Asn
XM_024450856.1:c.2201T>A XP_024306624.1:p.Ile734Asn
XM_024450857.1:c.2201T>A XP_024306625.1:p.Ile734Asn
XM_024450858.1:c.2120T>A XP_024306626.1:p.Ile707Asn
XM_024450859.1:c.2117T>A XP_024306627.1:p.Ile706Asn
XM_024450860.1:c.2042T>A XP_024306628.1:p.Ile681Asn
XM_024450861.1:c.2042T>A XP_024306629.1:p.Ile681Asn
XM_024450862.1:c.2039T>A XP_024306630.1:p.Ile680Asn
NM_018127.7:c.2324T>A MANE Select NP_060597.4:p.Ile775Asn
NM_001165962.2:c.2204T>A NP_001159434.1:p.Ile735Asn
NM_173717.2:c.2321T>A NP_776065.1:p.Ile774Asn