Canonical Allele Identifier: CA2681271436

Gene: THBS2 THBS2-AS1

Linked Data

• gnomAD v4: 6-169229535-GAACCCAGGGCAGGTGCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229536_169229553del , CM000668.2:g.169229536_169229553del	GRCh38
NC_000006.11:g.169629631_169629648del , CM000668.1:g.169629631_169629648del	GRCh37
NC_000006.10:g.169371556_169371573del	NCBI36
NG_022911.1:g.29490_29507del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2259+19_2259+36del (THBS2) MANE Select	ENSP00000482784.1:n.2259+19_2259+36del
ENST00000649844.1:c.2274+19_2274+36del (THBS2)	ENSP00000497834.1:n.2274+19_2274+36del
ENST00000676498.1:c.2259+19_2259+36del (THBS2)	ENSP00000504820.1:n.2259+19_2259+36del
ENST00000676628.1:c.2085+19_2085+36del (THBS2)	ENSP00000504416.1:n.2085+19_2085+36del
ENST00000676760.1:c.2259+19_2259+36del (THBS2)	ENSP00000503020.1:n.2259+19_2259+36del
ENST00000676869.1:c.2088+19_2088+36del (THBS2)	ENSP00000504488.1:n.2088+19_2088+36del
ENST00000676941.1:c.1368+19_1368+36del (THBS2)	ENSP00000503028.1:n.1368+19_1368+36del
ENST00000677429.1:c.*1625+19_*1625+36del (THBS2)	ENSP00000503286.1:n.*1625+19_*1625+36del
ENST00000678378.1:n.1644+19_1644+36del (THBS2)
ENST00000366787.7:c.2259+19_2259+36del (THBS2)	ENSP00000355751.3:n.2259+19_2259+36del
ENST00000617924.4:c.2259+19_2259+36del (THBS2)	ENSP00000482784.1:n.2259+19_2259+36del
NM_003247.3:c.2259+19_2259+36del (THBS2)	NP_003238.2:n.2259+19_2259+36del
XR_943307.1:n.682-9689_682-9672del (THBS2-AS1)
NR_134621.1:n.682-9689_682-9672del (THBS2-AS1)
NM_003247.4:c.2259+19_2259+36del (THBS2)	NP_003238.2:n.2259+19_2259+36del
NM_001381939.1:c.2085+19_2085+36del (THBS2)	NP_001368868.1:n.2085+19_2085+36del
NM_001381942.1:c.2028+19_2028+36del (THBS2)	NP_001368871.1:n.2028+19_2028+36del
NM_003247.5:c.2259+19_2259+36del (THBS2) MANE Select	NP_003238.2:n.2259+19_2259+36del
NR_167744.1:n.2404+19_2404+36del (THBS2)
NR_167745.1:n.2533+19_2533+36del (THBS2)