Canonical Allele Identifier: CA12188047
Gene: BTNL2 HGNC NCBI
TSBP1-AS1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32407575A>C
GRCh37 chr6:g.32375352A>C
gnomAD v2:
6:32375352 A / C
gnomAD v3:
6:32407575 A / C
gnomAD v4:
chr6-32407575-A-C
Joint Max Group AF 0.47551044 (SAS)
Genomes Max Group AF 0.47520642 (SAS)
Exomes Max Group AF 0.40359056 (EAS)
dbSNP:
9268494
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32407575A>C , CM000668.2:g.32407575A>C GRCh38
NC_000006.11:g.32375352A>C , CM000668.1:g.32375352A>C GRCh37
NC_000006.10:g.32483330A>C NCBI36
NG_054759.1:g.6305T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011514755.1:c.-452T>G (BTNL2) XP_011513057.1:n.-452T>G
XM_011514756.1:c.-452T>G (BTNL2) XP_011513058.1:n.-452T>G
XM_011515039.1:c.*1444A>C (TSBP1-AS1) XP_011513341.1:n.*1444A>C
XR_926699.1:n.1666A>C (TSBP1-AS1)
NR_136245.1:n.1865A>C (TSBP1-AS1)
XM_017011057.1:c.-452T>G (BTNL2) XP_016866546.1:n.-452T>G
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