Canonical Allele Identifier: CA3798892
Gene: TREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.41159875C>A
GRCh37 chr6:g.41127613C>A
gnomAD v2:
6:41127613 C / A
gnomAD v3:
6:41159875 C / A
gnomAD v4:
chr6-41159875-C-A
Joint Max Group AF 0.0014456 (NFE)
Genomes Max Group AF 0.00143958 (NFE)
Exomes Max Group AF 0.00143241 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41159875C>A , CM000668.2:g.41159875C>A GRCh38
NC_000006.11:g.41127613C>A , CM000668.1:g.41127613C>A GRCh37
NC_000006.10:g.41235591C>A NCBI36
NG_011561.1:g.8310G>T , LRG_631:g.8310G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373113.8:c.399G>T MANE Select ENSP00000362205.3:p.Leu133=
ENST00000338469.3:c.399G>T ENSP00000342651.4:p.Leu133=
ENST00000373113.7:c.399G>T ENSP00000362205.3:p.Leu133=
ENST00000373122.8:c.399G>T ENSP00000362214.4:p.Leu133=
NM_001271821.1:c.399G>T NP_001258750.1:p.Leu133=
NM_018965.3:c.399G>T , LRG_631t1:c.399G>T NP_061838.1:p.Leu133=
XM_006715116.2:c.138G>T XP_006715179.1:p.Leu46=
XR_926795.1:n.222+4312C>A
XR_926796.1:n.214+4312C>A
XR_926797.1:n.188+4312C>A
XR_926795.2:n.517+4312C>A
XR_926797.2:n.232+4312C>A
NM_001271821.2:c.399G>T NP_001258750.1:p.Leu133=
NM_018965.4:c.399G>T MANE Select NP_061838.1:p.Leu133=
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