Canonical Allele Identifier: CA1087534628

Gene: BTNL2 TSBP1-AS1

Linked Data

• dbSNP Id: rs1776794875
• gnomAD v3: 6-32401722-CCTCCCTCTGCTGGGGAGGGCAGAGG-C
• gnomAD v4: 6-32401722-CCTCCCTCTGCTGGGGAGGGCAGAGG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32401730_32401754del , CM000668.2:g.32401730_32401754del	GRCh38
NC_000006.11:g.32369507_32369531del , CM000668.1:g.32369507_32369531del	GRCh37
NC_000006.10:g.32477485_32477509del	NCBI36
NG_054759.1:g.12133_12157del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374993.5:n.158+38_158+62del (BTNL2)
ENST00000454136.8:c.730+38_730+62del (BTNL2) MANE Select	ENSP00000390613.3:n.730+38_730+62del
ENST00000465865.6:c.*5+38_*5+62del (BTNL2)	ENSP00000420063.1:n.*5+38_*5+62del
ENST00000544175.3:c.207+38_207+62del (BTNL2)	ENSP00000443364.2:n.207+38_207+62del
ENST00000374993.4:c.730+38_730+62del (BTNL2)	ENSP00000364132.1:n.730+38_730+62del
ENST00000454136.7:c.730+38_730+62del (BTNL2)	ENSP00000390613.3:n.730+38_730+62del
ENST00000465865.5:c.212+38_212+62del (BTNL2)	ENSP00000420063.1:n.212+38_212+62del
ENST00000544175.2:c.-102+38_-102+62del (BTNL2)	ENSP00000443364.1:n.-102+38_-102+62del
NM_001304561.1:c.730+38_730+62del (BTNL2)	NP_001291490.1:n.730+38_730+62del
XM_011514755.1:c.730+38_730+62del (BTNL2)	XP_011513057.1:n.730+38_730+62del
XM_011514756.1:c.448+38_448+62del (BTNL2)	XP_011513058.1:n.448+38_448+62del
XM_011515039.1:c.482-3724_482-3700del (TSBP1-AS1)	XP_011513341.1:n.482-3724_482-3700del
NR_136245.1:n.303-3724_303-3700del (TSBP1-AS1)
XM_017011057.1:c.730+38_730+62del (BTNL2)	XP_016866546.1:n.730+38_730+62del
NM_001304561.2:c.730+38_730+62del (BTNL2) MANE Select	NP_001291490.1:n.730+38_730+62del