Canonical Allele Identifier: CA3798894
Gene: TREM2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.41159881G>A
GRCh37 chr6:g.41127619G>A
gnomAD v2:
6:41127619 G / A
gnomAD v3:
6:41159881 G / A
gnomAD v4:
chr6-41159881-G-A
Joint Max Group AF 0.00005464 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00005249 (NFE)
ClinVar RCV:
RCV000397560
RCV002524478
ClinVar Variation:
356677
dbSNP:
139607688
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41159881G>A , CM000668.2:g.41159881G>A GRCh38
NC_000006.11:g.41127619G>A , CM000668.1:g.41127619G>A GRCh37
NC_000006.10:g.41235597G>A NCBI36
NG_011561.1:g.8304C>T , LRG_631:g.8304C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373113.8:c.393C>T MANE Select ENSP00000362205.3:p.Asp131=
ENST00000338469.3:c.393C>T ENSP00000342651.4:p.Asp131=
ENST00000373113.7:c.393C>T ENSP00000362205.3:p.Asp131=
ENST00000373122.8:c.393C>T ENSP00000362214.4:p.Asp131=
NM_001271821.1:c.393C>T NP_001258750.1:p.Asp131=
NM_018965.3:c.393C>T , LRG_631t1:c.393C>T NP_061838.1:p.Asp131=
XM_006715116.2:c.132C>T XP_006715179.1:p.Asp44=
XR_926795.1:n.222+4318G>A
XR_926796.1:n.214+4318G>A
XR_926797.1:n.188+4318G>A
XR_926795.2:n.517+4318G>A
XR_926797.2:n.232+4318G>A
NM_001271821.2:c.393C>T NP_001258750.1:p.Asp131=
NM_018965.4:c.393C>T MANE Select NP_061838.1:p.Asp131=
Search 100 bp 5'
Search 100 bp 3'