Canonical Allele Identifier: CA398222117
Gene: ELAC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2095104
ClinVar RCV Id: RCV003012173
dbSNP Id: rs2040253504

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12992877G>A , CM000679.2:g.12992877G>A GRCh38
NC_000017.10:g.12896194G>A , CM000679.1:g.12896194G>A GRCh37
NC_000017.9:g.12836919G>A NCBI36
NG_015808.1:g.30188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.2422C>T MANE Select ENSP00000337445.4:p.Pro808Ser
ENST00000338034.8:c.2422C>T ENSP00000337445.4:p.Pro808Ser
ENST00000395962.6:c.2365C>T ENSP00000379291.1:p.Pro789Ser
ENST00000426905.7:c.2302C>T ENSP00000405223.3:p.Pro768Ser
ENST00000465825.5:n.2309C>T
ENST00000480891.5:n.2251C>T
ENST00000484122.5:n.3252C>T
ENST00000487229.6:n.1968C>T
ENST00000584650.5:c.1821C>T
NM_001165962.1:c.2302C>T NP_001159434.1:p.Pro768Ser
NM_018127.6:c.2422C>T NP_060597.4:p.Pro808Ser
NM_173717.1:c.2419C>T NP_776065.1:p.Pro807Ser
XM_024450850.1:c.2581C>T XP_024306618.1:p.Pro861Ser
XM_024450851.1:c.2503C>T XP_024306619.1:p.Pro835Ser
XM_024450852.1:c.2500C>T XP_024306620.1:p.Pro834Ser
XM_024450853.1:c.2497C>T XP_024306621.1:p.Pro833Ser
XM_024450854.1:c.2461C>T XP_024306622.1:p.Pro821Ser
XM_024450855.1:c.2380C>T XP_024306623.1:p.Pro794Ser
XM_024450856.1:c.2299C>T XP_024306624.1:p.Pro767Ser
XM_024450857.1:c.2299C>T XP_024306625.1:p.Pro767Ser
XM_024450858.1:c.2218C>T XP_024306626.1:p.Pro740Ser
XM_024450859.1:c.2215C>T XP_024306627.1:p.Pro739Ser
XM_024450860.1:c.2140C>T XP_024306628.1:p.Pro714Ser
XM_024450861.1:c.2140C>T XP_024306629.1:p.Pro714Ser
XM_024450862.1:c.2137C>T XP_024306630.1:p.Pro713Ser
NM_018127.7:c.2422C>T MANE Select NP_060597.4:p.Pro808Ser
NM_001165962.2:c.2302C>T NP_001159434.1:p.Pro768Ser
NM_173717.2:c.2419C>T NP_776065.1:p.Pro807Ser