Canonical Allele Identifier: CA3798950
Gene: TREM2 HGNC NCBI
COSMIC:
COSM328188 (not active)
MyVariant.info:
GRCh38 chr6:g.41161469C>T
GRCh37 chr6:g.41129207C>T
Revel Score:
ENST00000373113 (MANE Select) 0.039
ENST00000338469 0.039
ENST00000373122 0.039
gnomAD v2:
6:41129207 C / T
gnomAD v3:
6:41161469 C / T
gnomAD v4:
chr6-41161469-C-T
Joint Max Group AF 0.01038788 (NFE)
Genomes Max Group AF 0.01009848 (NFE)
Exomes Max Group AF 0.01037093 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41161469C>T , CM000668.2:g.41161469C>T GRCh38
NC_000006.11:g.41129207C>T , CM000668.1:g.41129207C>T GRCh37
NC_000006.10:g.41237185C>T NCBI36
NG_011561.1:g.6716G>A , LRG_631:g.6716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373113.8:c.185G>A MANE Select ENSP00000362205.3:p.Arg62His
ENST00000338469.3:c.185G>A ENSP00000342651.4:p.Arg62His
ENST00000373113.7:c.185G>A ENSP00000362205.3:p.Arg62His
ENST00000373122.8:c.185G>A ENSP00000362214.4:p.Arg62His
NM_001271821.1:c.185G>A NP_001258750.1:p.Arg62His
NM_018965.3:c.185G>A , LRG_631t1:c.185G>A NP_061838.1:p.Arg62His
XM_006715116.2:c.130+1574G>A XP_006715179.1:n.130+1574G>A
XR_926795.1:n.222+5906C>T
XR_926796.1:n.214+5906C>T
XR_926797.1:n.188+5906C>T
XR_926795.2:n.517+5906C>T
XR_926797.2:n.232+5906C>T
NM_001271821.2:c.185G>A NP_001258750.1:p.Arg62His
NM_018965.4:c.185G>A MANE Select NP_061838.1:p.Arg62His
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