Canonical Allele Identifier: CA2681271468

Gene: THBS2 THBS2-AS1

Linked Data

• gnomAD v4: 6-169229569-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229569_169229570insGA , CM000668.2:g.169229569_169229570insGA	GRCh38
NC_000006.11:g.169629664_169629665insGA , CM000668.1:g.169629664_169629665insGA	GRCh37
NC_000006.10:g.169371589_169371590insGA	NCBI36
NG_022911.1:g.29473_29474insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2259+2_2259+3insTC (THBS2) MANE Select	ENSP00000482784.1:n.2259+2_2259+3insTC
ENST00000649844.1:c.2274+2_2274+3insTC (THBS2)	ENSP00000497834.1:n.2274+2_2274+3insTC
ENST00000676498.1:c.2259+2_2259+3insTC (THBS2)	ENSP00000504820.1:n.2259+2_2259+3insTC
ENST00000676628.1:c.2085+2_2085+3insTC (THBS2)	ENSP00000504416.1:n.2085+2_2085+3insTC
ENST00000676760.1:c.2259+2_2259+3insTC (THBS2)	ENSP00000503020.1:n.2259+2_2259+3insTC
ENST00000676869.1:c.2088+2_2088+3insTC (THBS2)	ENSP00000504488.1:n.2088+2_2088+3insTC
ENST00000676941.1:c.1368+2_1368+3insTC (THBS2)	ENSP00000503028.1:n.1368+2_1368+3insTC
ENST00000677429.1:c.*1625+2_*1625+3insTC (THBS2)	ENSP00000503286.1:n.*1625+2_*1625+3insTC
ENST00000678378.1:n.1644+2_1644+3insTC (THBS2)
ENST00000366787.7:c.2259+2_2259+3insTC (THBS2)	ENSP00000355751.3:n.2259+2_2259+3insTC
ENST00000617924.4:c.2259+2_2259+3insTC (THBS2)	ENSP00000482784.1:n.2259+2_2259+3insTC
NM_003247.3:c.2259+2_2259+3insTC (THBS2)	NP_003238.2:n.2259+2_2259+3insTC
XR_943307.1:n.682-9656_682-9655insGA (THBS2-AS1)
NR_134621.1:n.682-9656_682-9655insGA (THBS2-AS1)
NM_003247.4:c.2259+2_2259+3insTC (THBS2)	NP_003238.2:n.2259+2_2259+3insTC
NM_001381939.1:c.2085+2_2085+3insTC (THBS2)	NP_001368868.1:n.2085+2_2085+3insTC
NM_001381942.1:c.2028+2_2028+3insTC (THBS2)	NP_001368871.1:n.2028+2_2028+3insTC
NM_003247.5:c.2259+2_2259+3insTC (THBS2) MANE Select	NP_003238.2:n.2259+2_2259+3insTC
NR_167744.1:n.2404+2_2404+3insTC (THBS2)
NR_167745.1:n.2533+2_2533+3insTC (THBS2)