Canonical Allele Identifier: CA340362

Gene: TREM2

Linked Data

• ClinVar Variation Id: 5213
• ClinVar RCV Id: RCV000005523 ; RCV000721925
• dbSNP Id: rs104893998
• ExAC: 6:41129159 C / T
• gnomAD v2: 6-41129159-C-T
• gnomAD v3: 6-41161421-C-T
• gnomAD v4: 6-41161421-C-T
• MyVariant Identifiers: chr6:g.41129159C>T (hg19) ; chr6:g.41161421C>T (hg38)
• PubMed: PMID:12080485 ; PMID:12925681 ; PMID:20301376

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41161421C>T , CM000668.2:g.41161421C>T	GRCh38
NC_000006.11:g.41129159C>T , CM000668.1:g.41129159C>T	GRCh37
NC_000006.10:g.41237137C>T	NCBI36
NG_011561.1:g.6764G>A , LRG_631:g.6764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373113.8:c.233G>A MANE Select	ENSP00000362205.3:p.Trp78Ter
ENST00000338469.3:c.233G>A	ENSP00000342651.4:p.Trp78Ter
ENST00000373113.7:c.233G>A	ENSP00000362205.3:p.Trp78Ter
ENST00000373122.8:c.233G>A	ENSP00000362214.4:p.Trp78Ter
NM_001271821.1:c.233G>A	NP_001258750.1:p.Trp78Ter
NM_018965.3:c.233G>A , LRG_631t1:c.233G>A	NP_061838.1:p.Trp78Ter
XM_006715116.2:c.131-1539G>A	XP_006715179.1:n.131-1539G>A
XR_926795.1:n.222+5858C>T
XR_926796.1:n.214+5858C>T
XR_926797.1:n.188+5858C>T
XR_926795.2:n.517+5858C>T
XR_926797.2:n.232+5858C>T
NM_001271821.2:c.233G>A	NP_001258750.1:p.Trp78Ter
NM_018965.4:c.233G>A MANE Select	NP_061838.1:p.Trp78Ter