Canonical Allele Identifier: CA347275

Gene: TREM2

Linked Data

• ClinVar Variation Id: 192242
• ClinVar RCV Id: RCV000192213 ; RCV001852102
• dbSNP Id: rs201258663
• ExAC: 6:41129195 G / A
• gnomAD v2: 6-41129195-G-A
• gnomAD v3: 6-41161457-G-A
• gnomAD v4: 6-41161457-G-A
• COSMIC: COSM5797485 ; COSM5797486 ; COSM5797487
• MyVariant Identifiers: chr6:g.41129195G>A (hg19) ; chr6:g.41161457G>A (hg38)
• PubMed: PMID:20301376

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41161457G>A , CM000668.2:g.41161457G>A	GRCh38
NC_000006.11:g.41129195G>A , CM000668.1:g.41129195G>A	GRCh37
NC_000006.10:g.41237173G>A	NCBI36
NG_011561.1:g.6728C>T , LRG_631:g.6728C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373113.8:c.197C>T MANE Select	ENSP00000362205.3:p.Thr66Met
ENST00000338469.3:c.197C>T	ENSP00000342651.4:p.Thr66Met
ENST00000373113.7:c.197C>T	ENSP00000362205.3:p.Thr66Met
ENST00000373122.8:c.197C>T	ENSP00000362214.4:p.Thr66Met
NM_001271821.1:c.197C>T	NP_001258750.1:p.Thr66Met
NM_018965.3:c.197C>T , LRG_631t1:c.197C>T	NP_061838.1:p.Thr66Met
XM_006715116.2:c.131-1575C>T	XP_006715179.1:n.131-1575C>T
XR_926795.1:n.222+5894G>A
XR_926796.1:n.214+5894G>A
XR_926797.1:n.188+5894G>A
XR_926795.2:n.517+5894G>A
XR_926797.2:n.232+5894G>A
NM_001271821.2:c.197C>T	NP_001258750.1:p.Thr66Met
NM_018965.4:c.197C>T MANE Select	NP_061838.1:p.Thr66Met