Canonical Allele Identifier: CA364058273
Community Standard Title: NM_018965.4(TREM2):c.401A>C (p.Asp134Ala)
Gene: TREM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.41159873T>G , CM000668.2:g.41159873T>G GRCh38
NC_000006.11:g.41127611T>G , CM000668.1:g.41127611T>G GRCh37
NC_000006.10:g.41235589T>G NCBI36
NG_011561.1:g.8312A>C , LRG_631:g.8312A>C

Transcript Alleles

HGVS Amino-acid Change
NM_018965.4:c.401A>C MANE Select NP_061838.1:p.Asp134Ala
ENST00000373113.8:c.401A>C MANE Select ENSP00000362205.3:p.Asp134Ala
NM_001271821.1:c.401A>C NP_001258750.1:p.Asp134Ala
NM_001271821.2:c.401A>C NP_001258750.1:p.Asp134Ala
NM_018965.3:c.401A>C , LRG_631t1:c.401A>C NP_061838.1:p.Asp134Ala
ENST00000338469.3:c.401A>C ENSP00000342651.4:p.Asp134Ala
ENST00000373113.7:c.401A>C ENSP00000362205.3:p.Asp134Ala
ENST00000373122.8:c.401A>C ENSP00000362214.4:p.Asp134Ala
XM_006715116.2:c.140A>C XP_006715179.1:p.Asp47Ala
XR_926795.1:n.222+4310T>G
XR_926795.2:n.517+4310T>G
XR_926796.1:n.214+4310T>G
XR_926797.1:n.188+4310T>G
XR_926797.2:n.232+4310T>G