Canonical Allele Identifier: CA363565027
Gene: BTNL2 HGNC NCBI
TSBP1-AS1 HGNC NCBI

Linked Data

gnomAD v3: 6-32396089-A-G
gnomAD v4: 6-32396089-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32396089A>G , CM000668.2:g.32396089A>G GRCh38
NC_000006.11:g.32363866A>G , CM000668.1:g.32363866A>G GRCh37
NC_000006.10:g.32471844A>G NCBI36
NG_054759.1:g.17791T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000374993.5:n.456T>C (BTNL2)
ENST00000454136.8:c.1028T>C (BTNL2) MANE Select ENSP00000390613.3:p.Phe343Ser
ENST00000465865.6:c.*303T>C (BTNL2) ENSP00000420063.1:n.*303T>C
ENST00000544175.3:c.*289T>C (BTNL2) ENSP00000443364.2:n.*289T>C
ENST00000374993.4:c.1028T>C (BTNL2) ENSP00000364132.1:p.Phe343Ser
ENST00000454136.7:c.1028T>C (BTNL2) ENSP00000390613.3:p.Phe343Ser
ENST00000465865.5:c.510T>C (BTNL2) ENSP00000420063.1:n.510T>C
ENST00000544175.2:c.197T>C (BTNL2) ENSP00000443364.1:p.Phe66Ser
NM_001304561.1:c.1028T>C (BTNL2) NP_001291490.1:p.Phe343Ser
XM_011514755.1:c.1028T>C (BTNL2) XP_011513057.1:p.Phe343Ser
XM_011514756.1:c.746T>C (BTNL2) XP_011513058.1:p.Phe249Ser
XM_011515039.1:c.482-9365A>G (TSBP1-AS1) XP_011513341.1:n.482-9365A>G
NR_136245.1:n.303-9365A>G (TSBP1-AS1)
XM_017011057.1:c.1028T>C (BTNL2) XP_016866546.1:p.Phe343Ser
NM_001304561.2:c.1028T>C (BTNL2) MANE Select NP_001291490.1:p.Phe343Ser