Canonical Allele Identifier: CA3798799

Gene: TREM2

Linked Data

• ClinVar Variation Id: 356674
• ClinVar RCV Id: RCV000346653 ; RCV001572928 ; RCV003950268
• dbSNP Id: rs75272959
• ExAC: 6:41126472 C / T
• gnomAD v2: 6-41126472-C-T
• gnomAD v3: 6-41158734-C-T
• gnomAD v4: 6-41158734-C-T
• MyVariant Identifiers: chr6:g.41126472C>T (hg19) ; chr6:g.41158734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41158734C>T , CM000668.2:g.41158734C>T	GRCh38
NC_000006.11:g.41126472C>T , CM000668.1:g.41126472C>T	GRCh37
NC_000006.10:g.41234450C>T	NCBI36
NG_011561.1:g.9451G>A , LRG_631:g.9451G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373113.8:c.*30G>A MANE Select	ENSP00000362205.3:n.*30G>A
ENST00000338469.3:c.529G>A	ENSP00000342651.4:p.Glu177Lys
ENST00000373113.7:c.*30G>A	ENSP00000362205.3:n.*30G>A
ENST00000373122.8:c.*94G>A	ENSP00000362214.4:n.*94G>A
NM_001271821.1:c.529G>A	NP_001258750.1:p.Glu177Lys
NM_018965.3:c.*30G>A , LRG_631t1:c.*30G>A	NP_061838.1:n.*30G>A
XM_006715116.2:c.*30G>A	XP_006715179.1:n.*30G>A
XR_926795.1:n.222+3171C>T
XR_926796.1:n.214+3171C>T
XR_926797.1:n.188+3171C>T
XR_926795.2:n.517+3171C>T
XR_926797.2:n.232+3171C>T
NM_001271821.2:c.529G>A	NP_001258750.1:p.Glu177Lys
NM_018965.4:c.*30G>A MANE Select	NP_061838.1:n.*30G>A