Canonical Allele Identifier: CA3741422
Gene: BTNL2 HGNC NCBI
TSBP1-AS1 HGNC NCBI
COSMIC:
COSM3761935 (not active)
COSM3761936 (not active)
MyVariant.info:
GRCh38 chr6:g.32403058T>C
GRCh37 chr6:g.32370835T>C
Revel Score:
ENST00000468270 0.098
ENST00000374993 0.098
gnomAD v2:
6:32370835 T / C
gnomAD v3:
6:32403058 T / C
gnomAD v4:
chr6-32403058-T-C
Joint Max Group AF 0.51081064 (AMR)
Genomes Max Group AF 0.43799267 (EAS)
Exomes Max Group AF 0.53648961 (AMR)
dbSNP:
2076523
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32403058T>C , CM000668.2:g.32403058T>C GRCh38
NC_000006.11:g.32370835T>C , CM000668.1:g.32370835T>C GRCh37
NC_000006.10:g.32478813T>C NCBI36
NG_054759.1:g.10822A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000374993.5:n.138-1253A>G (BTNL2)
ENST00000454136.8:c.586A>G (BTNL2) MANE Select ENSP00000390613.3:p.Lys196Glu
ENST00000465865.6:c.192-1253A>G (BTNL2) ENSP00000420063.1:n.192-1253A>G
ENST00000544175.3:c.187-1253A>G (BTNL2) ENSP00000443364.2:n.187-1253A>G
ENST00000374993.4:c.586A>G (BTNL2) ENSP00000364132.1:p.Lys196Glu
ENST00000454136.7:c.586A>G (BTNL2) ENSP00000390613.3:p.Lys196Glu
ENST00000465865.5:c.192-1253A>G (BTNL2) ENSP00000420063.1:n.192-1253A>G
ENST00000544175.2:c.-122-1253A>G (BTNL2) ENSP00000443364.1:n.-122-1253A>G
NM_001304561.1:c.586A>G (BTNL2) NP_001291490.1:p.Lys196Glu
XM_011514755.1:c.586A>G (BTNL2) XP_011513057.1:p.Lys196Glu
XM_011514756.1:c.428-1253A>G (BTNL2) XP_011513058.1:n.428-1253A>G
XM_011515039.1:c.482-2396T>C (TSBP1-AS1) XP_011513341.1:n.482-2396T>C
NR_136245.1:n.303-2396T>C (TSBP1-AS1)
XM_017011057.1:c.586A>G (BTNL2) XP_016866546.1:p.Lys196Glu
NM_001304561.2:c.586A>G (BTNL2) MANE Select NP_001291490.1:p.Lys196Glu
Search 100 bp 5'
Search 100 bp 3'