Canonical Allele Identifier: CA340368

Gene: TREM2

Linked Data

• ClinVar Variation Id: 5219
• ClinVar RCV Id: RCV000005529 ; RCV000721927 ; RCV002512810 ; RCV004018565
• dbSNP Id: rs104894002
• ExAC: 6:41129295 G / A
• gnomAD v2: 6-41129295-G-A
• gnomAD v3: 6-41161557-G-A
• gnomAD v4: 6-41161557-G-A
• MyVariant Identifiers: chr6:g.41129295G>A (hg19) ; chr6:g.41161557G>A (hg38)
• PubMed: PMID:15883308 ; PMID:20301376

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41161557G>A , CM000668.2:g.41161557G>A	GRCh38
NC_000006.11:g.41129295G>A , CM000668.1:g.41129295G>A	GRCh37
NC_000006.10:g.41237273G>A	NCBI36
NG_011561.1:g.6628C>T , LRG_631:g.6628C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373113.8:c.97C>T MANE Select	ENSP00000362205.3:p.Gln33Ter
ENST00000338469.3:c.97C>T	ENSP00000342651.4:p.Gln33Ter
ENST00000373113.7:c.97C>T	ENSP00000362205.3:p.Gln33Ter
ENST00000373122.8:c.97C>T	ENSP00000362214.4:p.Gln33Ter
NM_001271821.1:c.97C>T	NP_001258750.1:p.Gln33Ter
NM_018965.3:c.97C>T , LRG_631t1:c.97C>T	NP_061838.1:p.Gln33Ter
XM_006715116.2:c.130+1486C>T	XP_006715179.1:n.130+1486C>T
XR_926795.1:n.222+5994G>A
XR_926796.1:n.214+5994G>A
XR_926797.1:n.188+5994G>A
XR_926795.2:n.517+5994G>A
XR_926797.2:n.232+5994G>A
NM_001271821.2:c.97C>T	NP_001258750.1:p.Gln33Ter
NM_018965.4:c.97C>T MANE Select	NP_061838.1:p.Gln33Ter