Canonical Allele Identifier: CA4103056

Gene: THBS2 THBS2-AS1

Linked Data

• dbSNP Id: rs749853443
• ExAC: 6:169629694 ATCG / A
• gnomAD v2: 6-169629694-ATCG-A
• gnomAD v4: 6-169229599-ATCG-A
• MyVariant Identifiers: chr6:g.169629695_169629697del (hg19) ; chr6:g.169229600_169229602del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229602_169229604del , CM000668.2:g.169229602_169229604del	GRCh38
NC_000006.11:g.169629697_169629699del , CM000668.1:g.169629697_169629699del	GRCh37
NC_000006.10:g.169371622_169371624del	NCBI36
NG_022911.1:g.29441_29443del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2229_2231del (THBS2) MANE Select	ENSP00000482784.1:p.Asp744del
ENST00000649844.1:c.2244_2246del (THBS2)	ENSP00000497834.1:p.Asp749del
ENST00000676498.1:c.2229_2231del (THBS2)	ENSP00000504820.1:p.Asp744del
ENST00000676628.1:c.2055_2057del (THBS2)	ENSP00000504416.1:p.Asp686del
ENST00000676760.1:c.2229_2231del (THBS2)	ENSP00000503020.1:p.Asp744del
ENST00000676869.1:c.2058_2060del (THBS2)	ENSP00000504488.1:p.Asp687del
ENST00000676941.1:c.1338_1340del (THBS2)	ENSP00000503028.1:p.Asp447del
ENST00000677429.1:c.*1595_*1597del (THBS2)	ENSP00000503286.1:n.*1595_*1597del
ENST00000678378.1:n.1614_1616del (THBS2)
ENST00000366787.7:c.2229_2231del (THBS2)	ENSP00000355751.3:p.Asp744del
ENST00000617924.4:c.2229_2231del (THBS2)	ENSP00000482784.1:p.Asp744del
NM_003247.3:c.2229_2231del (THBS2)	NP_003238.2:p.Asp744del
XR_943307.1:n.682-9623_682-9621del (THBS2-AS1)
NR_134621.1:n.682-9623_682-9621del (THBS2-AS1)
NM_003247.4:c.2229_2231del (THBS2)	NP_003238.2:p.Asp744del
NM_001381939.1:c.2055_2057del (THBS2)	NP_001368868.1:p.Asp686del
NM_001381942.1:c.1998_2000del (THBS2)	NP_001368871.1:p.Asp667del
NM_003247.5:c.2229_2231del (THBS2) MANE Select	NP_003238.2:p.Asp744del
NR_167744.1:n.2374_2376del (THBS2)
NR_167745.1:n.2503_2505del (THBS2)