Canonical Allele Identifier: CA1681247467
Gene: THBS2 HGNC NCBI
THBS2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169229599_169229602delinsATCG , CM000668.2:g.169229599_169229602delinsATCG GRCh38
NC_000006.11:g.169629694_169629697delinsATCG , CM000668.1:g.169629694_169629697delinsATCG GRCh37
NC_000006.10:g.169371619_169371622delinsATCG NCBI36
NG_022911.1:g.29441_29444delinsCGAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000617924.6:c.2229_2232delinsCGAT (THBS2) MANE Select ENSP00000482784.1:p.Asp743=
ENST00000649844.1:c.2244_2247delinsCGAT (THBS2) ENSP00000497834.1:p.Asp748=
ENST00000676498.1:c.2229_2232delinsCGAT (THBS2) ENSP00000504820.1:p.Asp743=
ENST00000676628.1:c.2055_2058delinsCGAT (THBS2) ENSP00000504416.1:p.Asp685=
ENST00000676760.1:c.2229_2232delinsCGAT (THBS2) ENSP00000503020.1:p.Asp743=
ENST00000676869.1:c.2058_2061delinsCGAT (THBS2) ENSP00000504488.1:p.Asp686=
ENST00000676941.1:c.1338_1341delinsCGAT (THBS2) ENSP00000503028.1:p.Asp446=
ENST00000677429.1:c.*1595_*1598delinsCGAT (THBS2) ENSP00000503286.1:n.*1595_*1598delinsCGAT
ENST00000678378.1:n.1614_1617delinsCGAT (THBS2)
ENST00000366787.7:c.2229_2232delinsCGAT (THBS2) ENSP00000355751.3:p.Asp743=
ENST00000617924.4:c.2229_2232delinsCGAT (THBS2) ENSP00000482784.1:p.Asp743=
NM_003247.3:c.2229_2232delinsCGAT (THBS2) NP_003238.2:p.Asp743=
XR_943307.1:n.682-9626_682-9623delinsATCG (THBS2-AS1)
NR_134621.1:n.682-9626_682-9623delinsATCG (THBS2-AS1)
NM_003247.4:c.2229_2232delinsCGAT (THBS2) NP_003238.2:p.Asp743=
NM_001381939.1:c.2055_2058delinsCGAT (THBS2) NP_001368868.1:p.Asp685=
NM_001381942.1:c.1998_2001delinsCGAT (THBS2) NP_001368871.1:p.Asp666=
NM_003247.5:c.2229_2232delinsCGAT (THBS2) MANE Select NP_003238.2:p.Asp743=
NR_167744.1:n.2374_2377delinsCGAT (THBS2)
NR_167745.1:n.2503_2506delinsCGAT (THBS2)