Canonical Allele Identifier: CA366460164
Gene: THBS2 HGNC NCBI
THBS2-AS1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169229672C>A , CM000668.2:g.169229672C>A GRCh38
NC_000006.11:g.169629767C>A , CM000668.1:g.169629767C>A GRCh37
NC_000006.10:g.169371692C>A NCBI36
NG_022911.1:g.29371G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617924.6:c.2159G>T (THBS2) MANE Select ENSP00000482784.1:p.Cys720Phe
ENST00000649844.1:c.2174G>T (THBS2) ENSP00000497834.1:p.Cys725Phe
ENST00000676498.1:c.2159G>T (THBS2) ENSP00000504820.1:p.Cys720Phe
ENST00000676628.1:c.1985G>T (THBS2) ENSP00000504416.1:p.Cys662Phe
ENST00000676760.1:c.2159G>T (THBS2) ENSP00000503020.1:p.Cys720Phe
ENST00000676869.1:c.1988G>T (THBS2) ENSP00000504488.1:p.Cys663Phe
ENST00000676941.1:c.1268G>T (THBS2) ENSP00000503028.1:p.Cys423Phe
ENST00000677429.1:c.*1525G>T (THBS2) ENSP00000503286.1:n.*1525G>T
ENST00000678378.1:n.1544G>T (THBS2)
ENST00000366787.7:c.2159G>T (THBS2) ENSP00000355751.3:p.Cys720Phe
ENST00000617924.4:c.2159G>T (THBS2) ENSP00000482784.1:p.Cys720Phe
NM_003247.3:c.2159G>T (THBS2) NP_003238.2:p.Cys720Phe
XR_943307.1:n.682-9553C>A (THBS2-AS1)
NR_134621.1:n.682-9553C>A (THBS2-AS1)
NM_003247.4:c.2159G>T (THBS2) NP_003238.2:p.Cys720Phe
NM_001381939.1:c.1985G>T (THBS2) NP_001368868.1:p.Cys662Phe
NM_001381942.1:c.1928G>T (THBS2) NP_001368871.1:p.Cys643Phe
NM_003247.5:c.2159G>T (THBS2) MANE Select NP_003238.2:p.Cys720Phe
NR_167744.1:n.2304G>T (THBS2)
NR_167745.1:n.2433G>T (THBS2)