Canonical Allele Identifier: CA364059192
Gene: TREM2 HGNC NCBI

Linked Data

dbSNP Id: rs1765566819
gnomAD v3: 6-41161527-G-A
gnomAD v4: 6-41161527-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41161527G>A , CM000668.2:g.41161527G>A GRCh38
NC_000006.11:g.41129265G>A , CM000668.1:g.41129265G>A GRCh37
NC_000006.10:g.41237243G>A NCBI36
NG_011561.1:g.6658C>T , LRG_631:g.6658C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373113.8:c.127C>T MANE Select ENSP00000362205.3:p.His43Tyr
ENST00000338469.3:c.127C>T ENSP00000342651.4:p.His43Tyr
ENST00000373113.7:c.127C>T ENSP00000362205.3:p.His43Tyr
ENST00000373122.8:c.127C>T ENSP00000362214.4:p.His43Tyr
NM_001271821.1:c.127C>T NP_001258750.1:p.His43Tyr
NM_018965.3:c.127C>T , LRG_631t1:c.127C>T NP_061838.1:p.His43Tyr
XM_006715116.2:c.130+1516C>T XP_006715179.1:n.130+1516C>T
XR_926795.1:n.222+5964G>A
XR_926796.1:n.214+5964G>A
XR_926797.1:n.188+5964G>A
XR_926795.2:n.517+5964G>A
XR_926797.2:n.232+5964G>A
NM_001271821.2:c.127C>T NP_001258750.1:p.His43Tyr
NM_018965.4:c.127C>T MANE Select NP_061838.1:p.His43Tyr