Canonical Allele Identifier: CA2832550088

Gene: THBS2 THBS2-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229671dup , CM000668.2:g.169229671dup	GRCh38
NC_000006.11:g.169629766dup , CM000668.1:g.169629766dup	GRCh37
NC_000006.10:g.169371691dup	NCBI36
NG_022911.1:g.29376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2164dup (THBS2) MANE Select	ENSP00000482784.1:p.His722ProfsTer11
ENST00000649844.1:c.2179dup (THBS2)	ENSP00000497834.1:p.His727ProfsTer11
ENST00000676498.1:c.2164dup (THBS2)	ENSP00000504820.1:p.His722ProfsTer11
ENST00000676628.1:c.1990dup (THBS2)	ENSP00000504416.1:p.His664ProfsTer11
ENST00000676760.1:c.2164dup (THBS2)	ENSP00000503020.1:p.His722ProfsTer11
ENST00000676869.1:c.1993dup (THBS2)	ENSP00000504488.1:p.His665ProfsTer11
ENST00000676941.1:c.1273dup (THBS2)	ENSP00000503028.1:p.His425ProfsTer11
ENST00000677429.1:c.*1530dup (THBS2)	ENSP00000503286.1:n.*1530dup
ENST00000678378.1:n.1549dup (THBS2)
ENST00000366787.7:c.2164dup (THBS2)	ENSP00000355751.3:p.His722ProfsTer11
ENST00000617924.4:c.2164dup (THBS2)	ENSP00000482784.1:p.His722ProfsTer11
NM_003247.3:c.2164dup (THBS2)	NP_003238.2:p.His722ProfsTer11
XR_943307.1:n.682-9554dup (THBS2-AS1)
NR_134621.1:n.682-9554dup (THBS2-AS1)
NM_003247.4:c.2164dup (THBS2)	NP_003238.2:p.His722ProfsTer11
NM_001381939.1:c.1990dup (THBS2)	NP_001368868.1:p.His664ProfsTer11
NM_001381942.1:c.1933dup (THBS2)	NP_001368871.1:p.His645ProfsTer11
NM_003247.5:c.2164dup (THBS2) MANE Select	NP_003238.2:p.His722ProfsTer11
NR_167744.1:n.2309dup (THBS2)
NR_167745.1:n.2438dup (THBS2)