Canonical Allele Identifier: CA3798952
Gene: TREM2 HGNC NCBI

Linked Data

dbSNP Id: rs746306168
gnomAD v2: 6-41129221-C-T
gnomAD v3: 6-41161483-C-T
gnomAD v4: 6-41161483-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41161483C>T , CM000668.2:g.41161483C>T GRCh38
NC_000006.11:g.41129221C>T , CM000668.1:g.41129221C>T GRCh37
NC_000006.10:g.41237199C>T NCBI36
NG_011561.1:g.6702G>A , LRG_631:g.6702G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373113.8:c.171G>A MANE Select ENSP00000362205.3:p.Lys57=
ENST00000338469.3:c.171G>A ENSP00000342651.4:p.Lys57=
ENST00000373113.7:c.171G>A ENSP00000362205.3:p.Lys57=
ENST00000373122.8:c.171G>A ENSP00000362214.4:p.Lys57=
NM_001271821.1:c.171G>A NP_001258750.1:p.Lys57=
NM_018965.3:c.171G>A , LRG_631t1:c.171G>A NP_061838.1:p.Lys57=
XM_006715116.2:c.130+1560G>A XP_006715179.1:n.130+1560G>A
XR_926795.1:n.222+5920C>T
XR_926796.1:n.214+5920C>T
XR_926797.1:n.188+5920C>T
XR_926795.2:n.517+5920C>T
XR_926797.2:n.232+5920C>T
NM_001271821.2:c.171G>A NP_001258750.1:p.Lys57=
NM_018965.4:c.171G>A MANE Select NP_061838.1:p.Lys57=