Canonical Allele Identifier: CA366459957
Gene: THBS2 HGNC NCBI
THBS2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169229580C>G , CM000668.2:g.169229580C>G GRCh38
NC_000006.11:g.169629675C>G , CM000668.1:g.169629675C>G GRCh37
NC_000006.10:g.169371600C>G NCBI36
NG_022911.1:g.29463G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617924.6:c.2251G>C (THBS2) MANE Select ENSP00000482784.1:p.Asp751His
ENST00000649844.1:c.2266G>C (THBS2) ENSP00000497834.1:p.Asp756His
ENST00000676498.1:c.2251G>C (THBS2) ENSP00000504820.1:p.Asp751His
ENST00000676628.1:c.2077G>C (THBS2) ENSP00000504416.1:p.Asp693His
ENST00000676760.1:c.2251G>C (THBS2) ENSP00000503020.1:p.Asp751His
ENST00000676869.1:c.2080G>C (THBS2) ENSP00000504488.1:p.Asp694His
ENST00000676941.1:c.1360G>C (THBS2) ENSP00000503028.1:p.Asp454His
ENST00000677429.1:c.*1617G>C (THBS2) ENSP00000503286.1:n.*1617G>C
ENST00000678378.1:n.1636G>C (THBS2)
ENST00000366787.7:c.2251G>C (THBS2) ENSP00000355751.3:p.Asp751His
ENST00000617924.4:c.2251G>C (THBS2) ENSP00000482784.1:p.Asp751His
NM_003247.3:c.2251G>C (THBS2) NP_003238.2:p.Asp751His
XR_943307.1:n.682-9645C>G (THBS2-AS1)
NR_134621.1:n.682-9645C>G (THBS2-AS1)
NM_003247.4:c.2251G>C (THBS2) NP_003238.2:p.Asp751His
NM_001381939.1:c.2077G>C (THBS2) NP_001368868.1:p.Asp693His
NM_001381942.1:c.2020G>C (THBS2) NP_001368871.1:p.Asp674His
NM_003247.5:c.2251G>C (THBS2) MANE Select NP_003238.2:p.Asp751His
NR_167744.1:n.2396G>C (THBS2)
NR_167745.1:n.2525G>C (THBS2)