Canonical Allele Identifier: CA364059096
Gene: TREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2070342
ClinVar RCV Id: RCV002967062
gnomAD v4: 6-41161482-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41161482C>T , CM000668.2:g.41161482C>T GRCh38
NC_000006.11:g.41129220C>T , CM000668.1:g.41129220C>T GRCh37
NC_000006.10:g.41237198C>T NCBI36
NG_011561.1:g.6703G>A , LRG_631:g.6703G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000373113.8:c.172G>A MANE Select ENSP00000362205.3:p.Gly58Ser
ENST00000338469.3:c.172G>A ENSP00000342651.4:p.Gly58Ser
ENST00000373113.7:c.172G>A ENSP00000362205.3:p.Gly58Ser
ENST00000373122.8:c.172G>A ENSP00000362214.4:p.Gly58Ser
NM_001271821.1:c.172G>A NP_001258750.1:p.Gly58Ser
NM_018965.3:c.172G>A , LRG_631t1:c.172G>A NP_061838.1:p.Gly58Ser
XM_006715116.2:c.130+1561G>A XP_006715179.1:n.130+1561G>A
XR_926795.1:n.222+5919C>T
XR_926796.1:n.214+5919C>T
XR_926797.1:n.188+5919C>T
XR_926795.2:n.517+5919C>T
XR_926797.2:n.232+5919C>T
NM_001271821.2:c.172G>A NP_001258750.1:p.Gly58Ser
NM_018965.4:c.172G>A MANE Select NP_061838.1:p.Gly58Ser