Canonical Allele Identifier: CA366459966

Gene: THBS2 THBS2-AS1

Linked Data

• MyVariant Identifiers: chr6:g.169629680A>C (hg19) ; chr6:g.169229585A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229585A>C , CM000668.2:g.169229585A>C	GRCh38
NC_000006.11:g.169629680A>C , CM000668.1:g.169629680A>C	GRCh37
NC_000006.10:g.169371605A>C	NCBI36
NG_022911.1:g.29458T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2246T>G (THBS2) MANE Select	ENSP00000482784.1:p.Val749Gly
ENST00000649844.1:c.2261T>G (THBS2)	ENSP00000497834.1:p.Val754Gly
ENST00000676498.1:c.2246T>G (THBS2)	ENSP00000504820.1:p.Val749Gly
ENST00000676628.1:c.2072T>G (THBS2)	ENSP00000504416.1:p.Val691Gly
ENST00000676760.1:c.2246T>G (THBS2)	ENSP00000503020.1:p.Val749Gly
ENST00000676869.1:c.2075T>G (THBS2)	ENSP00000504488.1:p.Val692Gly
ENST00000676941.1:c.1355T>G (THBS2)	ENSP00000503028.1:p.Val452Gly
ENST00000677429.1:c.*1612T>G (THBS2)	ENSP00000503286.1:n.*1612T>G
ENST00000678378.1:n.1631T>G (THBS2)
ENST00000366787.7:c.2246T>G (THBS2)	ENSP00000355751.3:p.Val749Gly
ENST00000617924.4:c.2246T>G (THBS2)	ENSP00000482784.1:p.Val749Gly
NM_003247.3:c.2246T>G (THBS2)	NP_003238.2:p.Val749Gly
XR_943307.1:n.682-9640A>C (THBS2-AS1)
NR_134621.1:n.682-9640A>C (THBS2-AS1)
NM_003247.4:c.2246T>G (THBS2)	NP_003238.2:p.Val749Gly
NM_001381939.1:c.2072T>G (THBS2)	NP_001368868.1:p.Val691Gly
NM_001381942.1:c.2015T>G (THBS2)	NP_001368871.1:p.Val672Gly
NM_003247.5:c.2246T>G (THBS2) MANE Select	NP_003238.2:p.Val749Gly
NR_167744.1:n.2391T>G (THBS2)
NR_167745.1:n.2520T>G (THBS2)