Canonical Allele Identifier: CA2248421786
Gene: ELAC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12993032T= , CM000679.2:g.12993032T= GRCh38
NC_000017.10:g.12896349T= , CM000679.1:g.12896349T= GRCh37
NC_000017.9:g.12837074T= NCBI36
NG_015808.1:g.30033A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2267A= MANE Select ENSP00000337445.4:p.Asp756=
ENST00000338034.8:c.2267A= ENSP00000337445.4:p.Asp756=
ENST00000395962.6:c.2210A= ENSP00000379291.1:p.Asp737=
ENST00000426905.7:c.2147A= ENSP00000405223.3:p.Asp716=
ENST00000465825.5:n.2154A=
ENST00000480891.5:n.2096A=
ENST00000484122.5:n.3097A=
ENST00000487229.6:n.1813A=
ENST00000584650.5:c.1666A=
NM_001165962.1:c.2147A= NP_001159434.1:p.Asp716=
NM_018127.6:c.2267A= NP_060597.4:p.Asp756=
NM_173717.1:c.2264A= NP_776065.1:p.Asp755=
XM_024450850.1:c.2426A= XP_024306618.1:p.Asp809=
XM_024450851.1:c.2348A= XP_024306619.1:p.Asp783=
XM_024450852.1:c.2345A= XP_024306620.1:p.Asp782=
XM_024450853.1:c.2342A= XP_024306621.1:p.Asp781=
XM_024450854.1:c.2306A= XP_024306622.1:p.Asp769=
XM_024450855.1:c.2225A= XP_024306623.1:p.Asp742=
XM_024450856.1:c.2144A= XP_024306624.1:p.Asp715=
XM_024450857.1:c.2144A= XP_024306625.1:p.Asp715=
XM_024450858.1:c.2063A= XP_024306626.1:p.Asp688=
XM_024450859.1:c.2060A= XP_024306627.1:p.Asp687=
XM_024450860.1:c.1985A= XP_024306628.1:p.Asp662=
XM_024450861.1:c.1985A= XP_024306629.1:p.Asp662=
XM_024450862.1:c.1982A= XP_024306630.1:p.Asp661=
NM_018127.7:c.2267A= MANE Select NP_060597.4:p.Asp756=
NM_001165962.2:c.2147A= NP_001159434.1:p.Asp716=
NM_173717.2:c.2264A= NP_776065.1:p.Asp755=