Canonical Allele Identifier: CA398222366
Gene: ELAC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12993005G>A , CM000679.2:g.12993005G>A GRCh38
NC_000017.10:g.12896322G>A , CM000679.1:g.12896322G>A GRCh37
NC_000017.9:g.12837047G>A NCBI36
NG_015808.1:g.30060C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2294C>T MANE Select ENSP00000337445.4:p.Pro765Leu
ENST00000338034.8:c.2294C>T ENSP00000337445.4:p.Pro765Leu
ENST00000395962.6:c.2237C>T ENSP00000379291.1:p.Pro746Leu
ENST00000426905.7:c.2174C>T ENSP00000405223.3:p.Pro725Leu
ENST00000465825.5:n.2181C>T
ENST00000480891.5:n.2123C>T
ENST00000484122.5:n.3124C>T
ENST00000487229.6:n.1840C>T
ENST00000584650.5:c.1693C>T
NM_001165962.1:c.2174C>T NP_001159434.1:p.Pro725Leu
NM_018127.6:c.2294C>T NP_060597.4:p.Pro765Leu
NM_173717.1:c.2291C>T NP_776065.1:p.Pro764Leu
XM_024450850.1:c.2453C>T XP_024306618.1:p.Pro818Leu
XM_024450851.1:c.2375C>T XP_024306619.1:p.Pro792Leu
XM_024450852.1:c.2372C>T XP_024306620.1:p.Pro791Leu
XM_024450853.1:c.2369C>T XP_024306621.1:p.Pro790Leu
XM_024450854.1:c.2333C>T XP_024306622.1:p.Pro778Leu
XM_024450855.1:c.2252C>T XP_024306623.1:p.Pro751Leu
XM_024450856.1:c.2171C>T XP_024306624.1:p.Pro724Leu
XM_024450857.1:c.2171C>T XP_024306625.1:p.Pro724Leu
XM_024450858.1:c.2090C>T XP_024306626.1:p.Pro697Leu
XM_024450859.1:c.2087C>T XP_024306627.1:p.Pro696Leu
XM_024450860.1:c.2012C>T XP_024306628.1:p.Pro671Leu
XM_024450861.1:c.2012C>T XP_024306629.1:p.Pro671Leu
XM_024450862.1:c.2009C>T XP_024306630.1:p.Pro670Leu
NM_018127.7:c.2294C>T MANE Select NP_060597.4:p.Pro765Leu
NM_001165962.2:c.2174C>T NP_001159434.1:p.Pro725Leu
NM_173717.2:c.2291C>T NP_776065.1:p.Pro764Leu