Canonical Allele Identifier: CA366460109

Gene: THBS2 THBS2-AS1

Linked Data

• gnomAD v4: 6-169229646-C-G
• COSMIC: COSM88691
• MyVariant Identifiers: chr6:g.169629741C>G (hg19) ; chr6:g.169229646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229646C>G , CM000668.2:g.169229646C>G	GRCh38
NC_000006.11:g.169629741C>G , CM000668.1:g.169629741C>G	GRCh37
NC_000006.10:g.169371666C>G	NCBI36
NG_022911.1:g.29397G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2185G>C (THBS2) MANE Select	ENSP00000482784.1:p.Glu729Gln
ENST00000649844.1:c.2200G>C (THBS2)	ENSP00000497834.1:p.Glu734Gln
ENST00000676498.1:c.2185G>C (THBS2)	ENSP00000504820.1:p.Glu729Gln
ENST00000676628.1:c.2011G>C (THBS2)	ENSP00000504416.1:p.Glu671Gln
ENST00000676760.1:c.2185G>C (THBS2)	ENSP00000503020.1:p.Glu729Gln
ENST00000676869.1:c.2014G>C (THBS2)	ENSP00000504488.1:p.Glu672Gln
ENST00000676941.1:c.1294G>C (THBS2)	ENSP00000503028.1:p.Glu432Gln
ENST00000677429.1:c.*1551G>C (THBS2)	ENSP00000503286.1:n.*1551G>C
ENST00000678378.1:n.1570G>C (THBS2)
ENST00000366787.7:c.2185G>C (THBS2)	ENSP00000355751.3:p.Glu729Gln
ENST00000617924.4:c.2185G>C (THBS2)	ENSP00000482784.1:p.Glu729Gln
NM_003247.3:c.2185G>C (THBS2)	NP_003238.2:p.Glu729Gln
XR_943307.1:n.682-9579C>G (THBS2-AS1)
NR_134621.1:n.682-9579C>G (THBS2-AS1)
NM_003247.4:c.2185G>C (THBS2)	NP_003238.2:p.Glu729Gln
NM_001381939.1:c.2011G>C (THBS2)	NP_001368868.1:p.Glu671Gln
NM_001381942.1:c.1954G>C (THBS2)	NP_001368871.1:p.Glu652Gln
NM_003247.5:c.2185G>C (THBS2) MANE Select	NP_003238.2:p.Glu729Gln
NR_167744.1:n.2330G>C (THBS2)
NR_167745.1:n.2459G>C (THBS2)