Canonical Allele Identifier: CA364059090

Gene: TREM2

Linked Data

• ClinVar Variation Id: 3182093
• ClinVar RCV Id: RCV004473507
• gnomAD v4: 6-41161478-G-T
• MyVariant Identifiers: chr6:g.41129216G>T (hg19) ; chr6:g.41161478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41161478G>T , CM000668.2:g.41161478G>T	GRCh38
NC_000006.11:g.41129216G>T , CM000668.1:g.41129216G>T	GRCh37
NC_000006.10:g.41237194G>T	NCBI36
NG_011561.1:g.6707C>A , LRG_631:g.6707C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373113.8:c.176C>A MANE Select	ENSP00000362205.3:p.Pro59Gln
ENST00000338469.3:c.176C>A	ENSP00000342651.4:p.Pro59Gln
ENST00000373113.7:c.176C>A	ENSP00000362205.3:p.Pro59Gln
ENST00000373122.8:c.176C>A	ENSP00000362214.4:p.Pro59Gln
NM_001271821.1:c.176C>A	NP_001258750.1:p.Pro59Gln
NM_018965.3:c.176C>A , LRG_631t1:c.176C>A	NP_061838.1:p.Pro59Gln
XM_006715116.2:c.130+1565C>A	XP_006715179.1:n.130+1565C>A
XR_926795.1:n.222+5915G>T
XR_926796.1:n.214+5915G>T
XR_926797.1:n.188+5915G>T
XR_926795.2:n.517+5915G>T
XR_926797.2:n.232+5915G>T
NM_001271821.2:c.176C>A	NP_001258750.1:p.Pro59Gln
NM_018965.4:c.176C>A MANE Select	NP_061838.1:p.Pro59Gln