Canonical Allele Identifier: CA364057593
Community Standard Title: NM_018965.4(TREM2):c.558G>A (p.Lys186=)
Gene: TREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41158991C>T , CM000668.2:g.41158991C>T GRCh38
NC_000006.11:g.41126729C>T , CM000668.1:g.41126729C>T GRCh37
NC_000006.10:g.41234707C>T NCBI36
NG_011561.1:g.9194G>A , LRG_631:g.9194G>A

Transcript Alleles

HGVS Amino-acid Change
NM_018965.4:c.558G>A MANE Select NP_061838.1:p.Lys186=
ENST00000373113.8:c.558G>A MANE Select ENSP00000362205.3:p.Lys186=
NM_001271821.1:c.483-211G>A NP_001258750.1:n.483-211G>A
NM_001271821.2:c.483-211G>A NP_001258750.1:n.483-211G>A
NM_018965.3:c.558G>A , LRG_631t1:c.558G>A NP_061838.1:p.Lys186=
ENST00000338469.3:c.483-211G>A ENSP00000342651.4:n.483-211G>A
ENST00000373113.7:c.558G>A ENSP00000362205.3:p.Lys186=
ENST00000373122.8:c.598G>A ENSP00000362214.4:p.Asp200Asn
XM_006715116.2:c.297G>A XP_006715179.1:p.Lys99=
XR_926795.1:n.222+3428C>T
XR_926795.2:n.517+3428C>T
XR_926796.1:n.214+3428C>T
XR_926797.1:n.188+3428C>T
XR_926797.2:n.232+3428C>T