Canonical Allele Identifier: CA1087529698

Gene: BTNL2 TSBP1-AS1

Linked Data

• dbSNP Id: rs1776427460
• gnomAD v3: 6-32396065-TC-T
• gnomAD v4: 6-32396065-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32396067del , CM000668.2:g.32396067del	GRCh38
NC_000006.11:g.32363844del , CM000668.1:g.32363844del	GRCh37
NC_000006.10:g.32471822del	NCBI36
NG_054759.1:g.17814del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374993.5:n.479del (BTNL2)
ENST00000454136.8:c.1051del (BTNL2) MANE Select	ENSP00000390613.3:p.Glu351ArgfsTer6
ENST00000465865.6:c.*326del (BTNL2)	ENSP00000420063.1:n.*326del
ENST00000544175.3:c.*312del (BTNL2)	ENSP00000443364.2:n.*312del
ENST00000374993.4:c.1051del (BTNL2)	ENSP00000364132.1:p.Glu351ArgfsTer6
ENST00000454136.7:c.1051del (BTNL2)	ENSP00000390613.3:p.Glu351ArgfsTer6
ENST00000465865.5:c.533del (BTNL2)	ENSP00000420063.1:n.533del
ENST00000544175.2:c.220del (BTNL2)	ENSP00000443364.1:p.Glu74ArgfsTer6
NM_001304561.1:c.1051del (BTNL2)	NP_001291490.1:p.Glu351ArgfsTer6
XM_011514755.1:c.1051del (BTNL2)	XP_011513057.1:p.Glu351ArgfsTer6
XM_011514756.1:c.769del (BTNL2)	XP_011513058.1:p.Glu257ArgfsTer6
XM_011515039.1:c.482-9387del (TSBP1-AS1)	XP_011513341.1:n.482-9387del
NR_136245.1:n.303-9387del (TSBP1-AS1)
XM_017011057.1:c.1051del (BTNL2)	XP_016866546.1:p.Glu351ArgfsTer6
NM_001304561.2:c.1051del (BTNL2) MANE Select	NP_001291490.1:p.Glu351ArgfsTer6