Canonical Allele Identifier: CA3798803
Gene: TREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.41158767C>T
GRCh37 chr6:g.41126505C>T
Revel Score:
ENST00000338469 0.022
ENST00000373122 0.022
gnomAD v2:
6:41126505 C / T
gnomAD v3:
6:41158767 C / T
gnomAD v4:
chr6-41158767-C-T
Joint Max Group AF 0.00086726 (EAS)
Genomes Max Group AF 0.00119055 (EAS)
Exomes Max Group AF 0.0007379 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41158767C>T , CM000668.2:g.41158767C>T GRCh38
NC_000006.11:g.41126505C>T , CM000668.1:g.41126505C>T GRCh37
NC_000006.10:g.41234483C>T NCBI36
NG_011561.1:g.9418G>A , LRG_631:g.9418G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373113.8:c.690G>A MANE Select ENSP00000362205.3:p.Thr230=
ENST00000338469.3:c.496G>A ENSP00000342651.4:p.Val166Met
ENST00000373113.7:c.690G>A ENSP00000362205.3:p.Thr230=
ENST00000373122.8:c.*61G>A ENSP00000362214.4:n.*61G>A
NM_001271821.1:c.496G>A NP_001258750.1:p.Val166Met
NM_018965.3:c.690G>A , LRG_631t1:c.690G>A NP_061838.1:p.Thr230=
XM_006715116.2:c.429G>A XP_006715179.1:p.Thr143=
XR_926795.1:n.222+3204C>T
XR_926796.1:n.214+3204C>T
XR_926797.1:n.188+3204C>T
XR_926795.2:n.517+3204C>T
XR_926797.2:n.232+3204C>T
NM_001271821.2:c.496G>A NP_001258750.1:p.Val166Met
NM_018965.4:c.690G>A MANE Select NP_061838.1:p.Thr230=
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