Canonical Allele Identifier: CA138018610

Gene: TREM2

Linked Data

• dbSNP Id: rs201280312
• gnomAD v2: 6-41129003-G-A
• gnomAD v3: 6-41161265-G-A
• gnomAD v4: 6-41161265-G-A
• MyVariant Identifiers: chr6:g.41129003G>A (hg19) ; chr6:g.41161265G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.41161265G>A , CM000668.2:g.41161265G>A	GRCh38
NC_000006.11:g.41129003G>A , CM000668.1:g.41129003G>A	GRCh37
NC_000006.10:g.41236981G>A	NCBI36
NG_011561.1:g.6920C>T , LRG_631:g.6920C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373113.8:c.389C>T MANE Select	ENSP00000362205.3:p.Ala130Val
ENST00000338469.3:c.389C>T	ENSP00000342651.4:p.Ala130Val
ENST00000373113.7:c.389C>T	ENSP00000362205.3:p.Ala130Val
ENST00000373122.8:c.389C>T	ENSP00000362214.4:p.Ala130Val
NM_001271821.1:c.389C>T	NP_001258750.1:p.Ala130Val
NM_018965.3:c.389C>T , LRG_631t1:c.389C>T	NP_061838.1:p.Ala130Val
XM_006715116.2:c.131-1383C>T	XP_006715179.1:n.131-1383C>T
XR_926795.1:n.222+5702G>A
XR_926796.1:n.214+5702G>A
XR_926797.1:n.188+5702G>A
XR_926795.2:n.517+5702G>A
XR_926797.2:n.232+5702G>A
NM_001271821.2:c.389C>T	NP_001258750.1:p.Ala130Val
NM_018965.4:c.389C>T MANE Select	NP_061838.1:p.Ala130Val