Canonical Allele Identifier: CA347272
Gene: TREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.41161541T>C
GRCh37 chr6:g.41129279T>C
Revel Score:
ENST00000373113 (MANE Select) 0.743
ENST00000338469 0.743
ENST00000373122 0.743
gnomAD v2:
6:41129279 T / C
gnomAD v4:
chr6-41161541-T-C
Joint Max Group AF 6.8e-7 (NFE)
Exomes Max Group AF 7.2e-7 (NFE)
ClinVar RCV:
RCV000192212
RCV003556217
ClinVar Variation:
192241
dbSNP:
797044603
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41161541T>C , CM000668.2:g.41161541T>C GRCh38
NC_000006.11:g.41129279T>C , CM000668.1:g.41129279T>C GRCh37
NC_000006.10:g.41237257T>C NCBI36
NG_011561.1:g.6644A>G , LRG_631:g.6644A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000373113.8:c.113A>G MANE Select ENSP00000362205.3:p.Tyr38Cys
ENST00000338469.3:c.113A>G ENSP00000342651.4:p.Tyr38Cys
ENST00000373113.7:c.113A>G ENSP00000362205.3:p.Tyr38Cys
ENST00000373122.8:c.113A>G ENSP00000362214.4:p.Tyr38Cys
NM_001271821.1:c.113A>G NP_001258750.1:p.Tyr38Cys
NM_018965.3:c.113A>G , LRG_631t1:c.113A>G NP_061838.1:p.Tyr38Cys
XM_006715116.2:c.130+1502A>G XP_006715179.1:n.130+1502A>G
XR_926795.1:n.222+5978T>C
XR_926796.1:n.214+5978T>C
XR_926797.1:n.188+5978T>C
XR_926795.2:n.517+5978T>C
XR_926797.2:n.232+5978T>C
NM_001271821.2:c.113A>G NP_001258750.1:p.Tyr38Cys
NM_018965.4:c.113A>G MANE Select NP_061838.1:p.Tyr38Cys
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