Canonical Allele Identifier: CA117233
Gene: ELAC2 HGNC NCBI
COSMIC:
COSM4129570 (not active)
MyVariant.info:
GRCh38 chr17:g.12996585C>T
GRCh37 chr17:g.12899902C>T
Revel Score:
ENST00000426905 0.274
ENST00000338034 (MANE Select) 0.274
ENST00000395962 0.274
ENST00000457438 0.274
gnomAD v2:
17:12899902 C / T
gnomAD v3:
17:12996585 C / T
gnomAD v4:
chr17-12996585-C-T
Joint Max Group AF 0.04913085 (MID)
Genomes Max Group AF 0.03845997 (NFE)
Exomes Max Group AF 0.04882343 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.12996585C>T , CM000679.2:g.12996585C>T GRCh38
NC_000017.10:g.12899902C>T , CM000679.1:g.12899902C>T GRCh37
NC_000017.9:g.12840627C>T NCBI36
NG_015808.1:g.26480G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000338034.9:c.1621G>A MANE Select ENSP00000337445.4:p.Ala541Thr
ENST00000338034.8:c.1621G>A ENSP00000337445.4:p.Ala541Thr
ENST00000395962.6:c.1564G>A ENSP00000379291.1:p.Ala522Thr
ENST00000426905.7:c.1501G>A ENSP00000405223.3:p.Ala501Thr
ENST00000465825.5:n.940G>A
ENST00000480891.5:n.1450G>A
ENST00000484122.5:n.1883G>A
ENST00000487229.6:n.1167G>A
ENST00000491478.5:n.198G>A
ENST00000492559.5:n.428G>A
ENST00000584650.5:c.1020G>A
NM_001165962.1:c.1501G>A NP_001159434.1:p.Ala501Thr
NM_018127.6:c.1621G>A NP_060597.4:p.Ala541Thr
NM_173717.1:c.1618G>A NP_776065.1:p.Ala540Thr
XM_024450850.1:c.1702G>A XP_024306618.1:p.Ala568Thr
XM_024450851.1:c.1702G>A XP_024306619.1:p.Ala568Thr
XM_024450852.1:c.1621G>A XP_024306620.1:p.Ala541Thr
XM_024450853.1:c.1618G>A XP_024306621.1:p.Ala540Thr
XM_024450854.1:c.1582G>A XP_024306622.1:p.Ala528Thr
XM_024450855.1:c.1501G>A XP_024306623.1:p.Ala501Thr
XM_024450856.1:c.1420G>A XP_024306624.1:p.Ala474Thr
XM_024450857.1:c.1420G>A XP_024306625.1:p.Ala474Thr
XM_024450858.1:c.1339G>A XP_024306626.1:p.Ala447Thr
XM_024450859.1:c.1336G>A XP_024306627.1:p.Ala446Thr
XM_024450860.1:c.1339G>A XP_024306628.1:p.Ala447Thr
XM_024450861.1:c.1339G>A XP_024306629.1:p.Ala447Thr
XM_024450862.1:c.1336G>A XP_024306630.1:p.Ala446Thr
NM_018127.7:c.1621G>A MANE Select NP_060597.4:p.Ala541Thr
NM_001165962.2:c.1501G>A NP_001159434.1:p.Ala501Thr
NM_173717.2:c.1618G>A NP_776065.1:p.Ala540Thr
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