Canonical Allele Identifier: CA823996658

Gene: BTNL2 TSBP1-AS1

Linked Data

• dbSNP Id: rs1244347444
• gnomAD v4: 6-32401663-G-GAC
• MyVariant Identifiers: chr6:g.32369440_32369441insAC (hg19) ; chr6:g.32401663_32401664insAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.32401664_32401665dup , CM000668.2:g.32401664_32401665dup	GRCh38
NC_000006.11:g.32369441_32369442dup , CM000668.1:g.32369441_32369442dup	GRCh37
NC_000006.10:g.32477419_32477420dup	NCBI36
NG_054759.1:g.12215_12216dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374993.5:n.158+120_158+121dup (BTNL2)
ENST00000454136.8:c.730+120_730+121dup (BTNL2) MANE Select	ENSP00000390613.3:n.730+120_730+121dup
ENST00000465865.6:c.*5+120_*5+121dup (BTNL2)	ENSP00000420063.1:n.*5+120_*5+121dup
ENST00000544175.3:c.207+120_207+121dup (BTNL2)	ENSP00000443364.2:n.207+120_207+121dup
ENST00000374993.4:c.730+120_730+121dup (BTNL2)	ENSP00000364132.1:n.730+120_730+121dup
ENST00000454136.7:c.730+120_730+121dup (BTNL2)	ENSP00000390613.3:n.730+120_730+121dup
ENST00000465865.5:c.212+120_212+121dup (BTNL2)	ENSP00000420063.1:n.212+120_212+121dup
ENST00000544175.2:c.-102+120_-102+121dup (BTNL2)	ENSP00000443364.1:n.-102+120_-102+121dup
NM_001304561.1:c.730+120_730+121dup (BTNL2)	NP_001291490.1:n.730+120_730+121dup
XM_011514755.1:c.730+120_730+121dup (BTNL2)	XP_011513057.1:n.730+120_730+121dup
XM_011514756.1:c.448+120_448+121dup (BTNL2)	XP_011513058.1:n.448+120_448+121dup
XM_011515039.1:c.482-3790_482-3789dup (TSBP1-AS1)	XP_011513341.1:n.482-3790_482-3789dup
NR_136245.1:n.303-3790_303-3789dup (TSBP1-AS1)
XM_017011057.1:c.730+120_730+121dup (BTNL2)	XP_016866546.1:n.730+120_730+121dup
NM_001304561.2:c.730+120_730+121dup (BTNL2) MANE Select	NP_001291490.1:n.730+120_730+121dup