Canonical Allele Identifier: CA2678147460
Gene: BTNL2 HGNC NCBI
TSBP1-AS1 HGNC NCBI

Linked Data

gnomAD v4: 6-32401658-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32401658C>A , CM000668.2:g.32401658C>A GRCh38
NC_000006.11:g.32369435C>A , CM000668.1:g.32369435C>A GRCh37
NC_000006.10:g.32477413C>A NCBI36
NG_054759.1:g.12222G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374993.5:n.158+127G>T (BTNL2)
ENST00000454136.8:c.730+127G>T (BTNL2) MANE Select ENSP00000390613.3:n.730+127G>T
ENST00000465865.6:c.*5+127G>T (BTNL2) ENSP00000420063.1:n.*5+127G>T
ENST00000544175.3:c.207+127G>T (BTNL2) ENSP00000443364.2:n.207+127G>T
ENST00000374993.4:c.730+127G>T (BTNL2) ENSP00000364132.1:n.730+127G>T
ENST00000454136.7:c.730+127G>T (BTNL2) ENSP00000390613.3:n.730+127G>T
ENST00000465865.5:c.212+127G>T (BTNL2) ENSP00000420063.1:n.212+127G>T
ENST00000544175.2:c.-102+127G>T (BTNL2) ENSP00000443364.1:n.-102+127G>T
NM_001304561.1:c.730+127G>T (BTNL2) NP_001291490.1:n.730+127G>T
XM_011514755.1:c.730+127G>T (BTNL2) XP_011513057.1:n.730+127G>T
XM_011514756.1:c.448+127G>T (BTNL2) XP_011513058.1:n.448+127G>T
XM_011515039.1:c.482-3796C>A (TSBP1-AS1) XP_011513341.1:n.482-3796C>A
NR_136245.1:n.303-3796C>A (TSBP1-AS1)
XM_017011057.1:c.730+127G>T (BTNL2) XP_016866546.1:n.730+127G>T
NM_001304561.2:c.730+127G>T (BTNL2) MANE Select NP_001291490.1:n.730+127G>T