Canonical Allele Identifier: CA2248421238
Gene: ELAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992796G= , CM000679.2:g.12992796G= GRCh38
NC_000017.10:g.12896113G= , CM000679.1:g.12896113G= GRCh37
NC_000017.9:g.12836838G= NCBI36
NG_015808.1:g.30269C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.*22C= MANE Select ENSP00000337445.4:n.*22C=
ENST00000338034.8:c.*22C= ENSP00000337445.4:n.*22C=
ENST00000395962.6:c.*22C= ENSP00000379291.1:n.*22C=
ENST00000426905.7:c.*22C= ENSP00000405223.3:n.*22C=
ENST00000465825.5:n.2390C=
ENST00000480891.5:n.2332C=
ENST00000484122.5:n.3333C=
ENST00000487229.6:n.2049C=
ENST00000584650.5:c.1902C=
NM_001165962.1:c.*22C= NP_001159434.1:n.*22C=
NM_018127.6:c.*22C= NP_060597.4:n.*22C=
NM_173717.1:c.*22C= NP_776065.1:n.*22C=
XM_024450850.1:c.*22C= XP_024306618.1:n.*22C=
XM_024450851.1:c.*22C= XP_024306619.1:n.*22C=
XM_024450852.1:c.*22C= XP_024306620.1:n.*22C=
XM_024450853.1:c.*22C= XP_024306621.1:n.*22C=
XM_024450854.1:c.*22C= XP_024306622.1:n.*22C=
XM_024450855.1:c.*22C= XP_024306623.1:n.*22C=
XM_024450856.1:c.*22C= XP_024306624.1:n.*22C=
XM_024450857.1:c.*22C= XP_024306625.1:n.*22C=
XM_024450858.1:c.*22C= XP_024306626.1:n.*22C=
XM_024450859.1:c.*22C= XP_024306627.1:n.*22C=
XM_024450860.1:c.*22C= XP_024306628.1:n.*22C=
XM_024450861.1:c.*22C= XP_024306629.1:n.*22C=
XM_024450862.1:c.*22C= XP_024306630.1:n.*22C=
NM_018127.7:c.*22C= MANE Select NP_060597.4:n.*22C=
NM_001165962.2:c.*22C= NP_001159434.1:n.*22C=
NM_173717.2:c.*22C= NP_776065.1:n.*22C=