Canonical Allele Identifier: CA366460001
Gene: THBS2 HGNC NCBI
THBS2-AS1 HGNC NCBI

Linked Data

dbSNP Id: rs751145010

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169229601C>A , CM000668.2:g.169229601C>A GRCh38
NC_000006.11:g.169629696C>A , CM000668.1:g.169629696C>A GRCh37
NC_000006.10:g.169371621C>A NCBI36
NG_022911.1:g.29442G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617924.6:c.2230G>T (THBS2) MANE Select ENSP00000482784.1:p.Asp744Tyr
ENST00000649844.1:c.2245G>T (THBS2) ENSP00000497834.1:p.Asp749Tyr
ENST00000676498.1:c.2230G>T (THBS2) ENSP00000504820.1:p.Asp744Tyr
ENST00000676628.1:c.2056G>T (THBS2) ENSP00000504416.1:p.Asp686Tyr
ENST00000676760.1:c.2230G>T (THBS2) ENSP00000503020.1:p.Asp744Tyr
ENST00000676869.1:c.2059G>T (THBS2) ENSP00000504488.1:p.Asp687Tyr
ENST00000676941.1:c.1339G>T (THBS2) ENSP00000503028.1:p.Asp447Tyr
ENST00000677429.1:c.*1596G>T (THBS2) ENSP00000503286.1:n.*1596G>T
ENST00000678378.1:n.1615G>T (THBS2)
ENST00000366787.7:c.2230G>T (THBS2) ENSP00000355751.3:p.Asp744Tyr
ENST00000617924.4:c.2230G>T (THBS2) ENSP00000482784.1:p.Asp744Tyr
NM_003247.3:c.2230G>T (THBS2) NP_003238.2:p.Asp744Tyr
XR_943307.1:n.682-9624C>A (THBS2-AS1)
NR_134621.1:n.682-9624C>A (THBS2-AS1)
NM_003247.4:c.2230G>T (THBS2) NP_003238.2:p.Asp744Tyr
NM_001381939.1:c.2056G>T (THBS2) NP_001368868.1:p.Asp686Tyr
NM_001381942.1:c.1999G>T (THBS2) NP_001368871.1:p.Asp667Tyr
NM_003247.5:c.2230G>T (THBS2) MANE Select NP_003238.2:p.Asp744Tyr
NR_167744.1:n.2375G>T (THBS2)
NR_167745.1:n.2504G>T (THBS2)