Canonical Allele Identifier: CA2678147219
Gene: BTNL2 HGNC NCBI
TSBP1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 6-32395995-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32395995C>G , CM000668.2:g.32395995C>G GRCh38
NC_000006.11:g.32363772C>G , CM000668.1:g.32363772C>G GRCh37
NC_000006.10:g.32471750C>G NCBI36
NG_054759.1:g.17885G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374993.5:n.506+44G>C (BTNL2)
ENST00000454136.8:c.1078+44G>C (BTNL2) MANE Select ENSP00000390613.3:n.1078+44G>C
ENST00000465865.6:c.*349+48G>C (BTNL2) ENSP00000420063.1:n.*349+48G>C
ENST00000544175.3:c.*339+44G>C (BTNL2) ENSP00000443364.2:n.*339+44G>C
ENST00000374993.4:c.1078+44G>C (BTNL2) ENSP00000364132.1:n.1078+44G>C
ENST00000454136.7:c.1078+44G>C (BTNL2) ENSP00000390613.3:n.1078+44G>C
ENST00000465865.5:c.556+48G>C (BTNL2) ENSP00000420063.1:n.556+48G>C
ENST00000544175.2:c.247+44G>C (BTNL2) ENSP00000443364.1:n.247+44G>C
NM_001304561.1:c.1078+44G>C (BTNL2) NP_001291490.1:n.1078+44G>C
XM_011514755.1:c.1074+48G>C (BTNL2) XP_011513057.1:n.1074+48G>C
XM_011514756.1:c.*27G>C (BTNL2) XP_011513058.1:n.*27G>C
XM_011515039.1:c.482-9459C>G (TSBP1-AS1) XP_011513341.1:n.482-9459C>G
NR_136245.1:n.303-9459C>G (TSBP1-AS1)
XM_017011057.1:c.1078+44G>C (BTNL2) XP_016866546.1:n.1078+44G>C
NM_001304561.2:c.1078+44G>C (BTNL2) MANE Select NP_001291490.1:n.1078+44G>C