Canonical Allele Identifier: CA364057498
Community Standard Title: NM_018965.4(TREM2):c.594G>A (p.Trp198Ter)
Gene: TREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41158955C>T , CM000668.2:g.41158955C>T GRCh38
NC_000006.11:g.41126693C>T , CM000668.1:g.41126693C>T GRCh37
NC_000006.10:g.41234671C>T NCBI36
NG_011561.1:g.9230G>A , LRG_631:g.9230G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018965.4:c.594G>A MANE Select NP_061838.1:p.Trp198Ter
ENST00000373113.8:c.594G>A MANE Select ENSP00000362205.3:p.Trp198Ter
NM_001271821.1:c.483-175G>A NP_001258750.1:n.483-175G>A
NM_001271821.2:c.483-175G>A NP_001258750.1:n.483-175G>A
NM_018965.3:c.594G>A , LRG_631t1:c.594G>A NP_061838.1:p.Trp198Ter
ENST00000338469.3:c.483-175G>A ENSP00000342651.4:n.483-175G>A
ENST00000373113.7:c.594G>A ENSP00000362205.3:p.Trp198Ter
ENST00000373122.8:c.634G>A ENSP00000362214.4:p.Ala212Thr
XM_006715116.2:c.333G>A XP_006715179.1:p.Trp111Ter
XR_926795.1:n.222+3392C>T
XR_926795.2:n.517+3392C>T
XR_926796.1:n.214+3392C>T
XR_926797.1:n.188+3392C>T
XR_926797.2:n.232+3392C>T