Canonical Allele Identifier: CA347275
Gene: TREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.41161457G>A
GRCh37 chr6:g.41129195G>A
Revel Score:
ENST00000373113 (MANE Select) 0.431
ENST00000338469 0.431
ENST00000373122 0.431
gnomAD v2:
6:41129195 G / A
gnomAD v3:
6:41161457 G / A
gnomAD v4:
chr6-41161457-G-A
Joint Max Group AF 0.0002832 (SAS)
Genomes Max Group AF 0.00007285 (SAS)
Exomes Max Group AF 0.00027957 (SAS)
ClinVar RCV:
RCV000192213
RCV001852102
ClinVar Variation:
192242
dbSNP:
201258663
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41161457G>A , CM000668.2:g.41161457G>A GRCh38
NC_000006.11:g.41129195G>A , CM000668.1:g.41129195G>A GRCh37
NC_000006.10:g.41237173G>A NCBI36
NG_011561.1:g.6728C>T , LRG_631:g.6728C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373113.8:c.197C>T MANE Select ENSP00000362205.3:p.Thr66Met
ENST00000338469.3:c.197C>T ENSP00000342651.4:p.Thr66Met
ENST00000373113.7:c.197C>T ENSP00000362205.3:p.Thr66Met
ENST00000373122.8:c.197C>T ENSP00000362214.4:p.Thr66Met
NM_001271821.1:c.197C>T NP_001258750.1:p.Thr66Met
NM_018965.3:c.197C>T , LRG_631t1:c.197C>T NP_061838.1:p.Thr66Met
XM_006715116.2:c.131-1575C>T XP_006715179.1:n.131-1575C>T
XR_926795.1:n.222+5894G>A
XR_926796.1:n.214+5894G>A
XR_926797.1:n.188+5894G>A
XR_926795.2:n.517+5894G>A
XR_926797.2:n.232+5894G>A
NM_001271821.2:c.197C>T NP_001258750.1:p.Thr66Met
NM_018965.4:c.197C>T MANE Select NP_061838.1:p.Thr66Met
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