Canonical Allele Identifier: CA366459950
Gene: THBS2 HGNC NCBI
THBS2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169229577C>G , CM000668.2:g.169229577C>G GRCh38
NC_000006.11:g.169629672C>G , CM000668.1:g.169629672C>G GRCh37
NC_000006.10:g.169371597C>G NCBI36
NG_022911.1:g.29466G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617924.6:c.2254G>C (THBS2) MANE Select ENSP00000482784.1:p.Glu752Gln
ENST00000649844.1:c.2269G>C (THBS2) ENSP00000497834.1:p.Glu757Gln
ENST00000676498.1:c.2254G>C (THBS2) ENSP00000504820.1:p.Glu752Gln
ENST00000676628.1:c.2080G>C (THBS2) ENSP00000504416.1:p.Glu694Gln
ENST00000676760.1:c.2254G>C (THBS2) ENSP00000503020.1:p.Glu752Gln
ENST00000676869.1:c.2083G>C (THBS2) ENSP00000504488.1:p.Glu695Gln
ENST00000676941.1:c.1363G>C (THBS2) ENSP00000503028.1:p.Glu455Gln
ENST00000677429.1:c.*1620G>C (THBS2) ENSP00000503286.1:n.*1620G>C
ENST00000678378.1:n.1639G>C (THBS2)
ENST00000366787.7:c.2254G>C (THBS2) ENSP00000355751.3:p.Glu752Gln
ENST00000617924.4:c.2254G>C (THBS2) ENSP00000482784.1:p.Glu752Gln
NM_003247.3:c.2254G>C (THBS2) NP_003238.2:p.Glu752Gln
XR_943307.1:n.682-9648C>G (THBS2-AS1)
NR_134621.1:n.682-9648C>G (THBS2-AS1)
NM_003247.4:c.2254G>C (THBS2) NP_003238.2:p.Glu752Gln
NM_001381939.1:c.2080G>C (THBS2) NP_001368868.1:p.Glu694Gln
NM_001381942.1:c.2023G>C (THBS2) NP_001368871.1:p.Glu675Gln
NM_003247.5:c.2254G>C (THBS2) MANE Select NP_003238.2:p.Glu752Gln
NR_167744.1:n.2399G>C (THBS2)
NR_167745.1:n.2528G>C (THBS2)