Canonical Allele Identifier: CA1619538987

Gene: BTNL2 TSBP1-AS1

Linked Data

• dbSNP Id: rs1776428940
• gnomAD v3: 6-32396087-C-CAA
• gnomAD v4: 6-32396087-C-CAA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32396091_32396092dup , CM000668.2:g.32396091_32396092dup	GRCh38
NC_000006.11:g.32363868_32363869dup , CM000668.1:g.32363868_32363869dup	GRCh37
NC_000006.10:g.32471846_32471847dup	NCBI36
NG_054759.1:g.17791_17792dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374993.5:n.456_457dup (BTNL2)
ENST00000454136.8:c.1028_1029dup (BTNL2) MANE Select	ENSP00000390613.3:p.Glu344LeufsTer14
ENST00000465865.6:c.*303_*304dup (BTNL2)	ENSP00000420063.1:n.*303_*304dup
ENST00000544175.3:c.*289_*290dup (BTNL2)	ENSP00000443364.2:n.*289_*290dup
ENST00000374993.4:c.1028_1029dup (BTNL2)	ENSP00000364132.1:p.Glu344LeufsTer14
ENST00000454136.7:c.1028_1029dup (BTNL2)	ENSP00000390613.3:p.Glu344LeufsTer14
ENST00000465865.5:c.510_511dup (BTNL2)	ENSP00000420063.1:n.510_511dup
ENST00000544175.2:c.197_198dup (BTNL2)	ENSP00000443364.1:p.Glu67LeufsTer14
NM_001304561.1:c.1028_1029dup (BTNL2)	NP_001291490.1:p.Glu344LeufsTer14
XM_011514755.1:c.1028_1029dup (BTNL2)	XP_011513057.1:p.Glu344LeufsTer14
XM_011514756.1:c.746_747dup (BTNL2)	XP_011513058.1:p.Glu250LeufsTer14
XM_011515039.1:c.482-9363_482-9362dup (TSBP1-AS1)	XP_011513341.1:n.482-9363_482-9362dup
NR_136245.1:n.303-9363_303-9362dup (TSBP1-AS1)
XM_017011057.1:c.1028_1029dup (BTNL2)	XP_016866546.1:p.Glu344LeufsTer14
NM_001304561.2:c.1028_1029dup (BTNL2) MANE Select	NP_001291490.1:p.Glu344LeufsTer14