Canonical Allele Identifier: CA340365

Gene: TREM2

Linked Data

• ClinVar Variation Id: 5218
• ClinVar RCV Id: RCV000005528 ; RCV000721926 ; RCV003398447
• dbSNP Id: rs121908402
• ExAC: 6:41129015 A / C
• gnomAD v2: 6-41129015-A-C
• gnomAD v4: 6-41161277-A-C
• MyVariant Identifiers: chr6:g.41129015A>C (hg19) ; chr6:g.41161277A>C (hg38)
• PubMed: PMID:15883308 ; PMID:20301376

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41161277A>C , CM000668.2:g.41161277A>C	GRCh38
NC_000006.11:g.41129015A>C , CM000668.1:g.41129015A>C	GRCh37
NC_000006.10:g.41236993A>C	NCBI36
NG_011561.1:g.6908T>G , LRG_631:g.6908T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373113.8:c.377T>G MANE Select	ENSP00000362205.3:p.Val126Gly
ENST00000338469.3:c.377T>G	ENSP00000342651.4:p.Val126Gly
ENST00000373113.7:c.377T>G	ENSP00000362205.3:p.Val126Gly
ENST00000373122.8:c.377T>G	ENSP00000362214.4:p.Val126Gly
NM_001271821.1:c.377T>G	NP_001258750.1:p.Val126Gly
NM_018965.3:c.377T>G , LRG_631t1:c.377T>G	NP_061838.1:p.Val126Gly
XM_006715116.2:c.131-1395T>G	XP_006715179.1:n.131-1395T>G
XR_926795.1:n.222+5714A>C
XR_926796.1:n.214+5714A>C
XR_926797.1:n.188+5714A>C
XR_926795.2:n.517+5714A>C
XR_926797.2:n.232+5714A>C
NM_001271821.2:c.377T>G	NP_001258750.1:p.Val126Gly
NM_018965.4:c.377T>G MANE Select	NP_061838.1:p.Val126Gly