Canonical Allele Identifier: CA4103054

Gene: THBS2 THBS2-AS1

Linked Data

• dbSNP Id: rs762992635
• ExAC: 6:169629687 C / A
• gnomAD v2: 6-169629687-C-A
• gnomAD v4: 6-169229592-C-A
• MyVariant Identifiers: chr6:g.169629687C>A (hg19) ; chr6:g.169229592C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229592C>A , CM000668.2:g.169229592C>A	GRCh38
NC_000006.11:g.169629687C>A , CM000668.1:g.169629687C>A	GRCh37
NC_000006.10:g.169371612C>A	NCBI36
NG_022911.1:g.29451G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2239G>T (THBS2) MANE Select	ENSP00000482784.1:p.Asp747Tyr
ENST00000649844.1:c.2254G>T (THBS2)	ENSP00000497834.1:p.Asp752Tyr
ENST00000676498.1:c.2239G>T (THBS2)	ENSP00000504820.1:p.Asp747Tyr
ENST00000676628.1:c.2065G>T (THBS2)	ENSP00000504416.1:p.Asp689Tyr
ENST00000676760.1:c.2239G>T (THBS2)	ENSP00000503020.1:p.Asp747Tyr
ENST00000676869.1:c.2068G>T (THBS2)	ENSP00000504488.1:p.Asp690Tyr
ENST00000676941.1:c.1348G>T (THBS2)	ENSP00000503028.1:p.Asp450Tyr
ENST00000677429.1:c.*1605G>T (THBS2)	ENSP00000503286.1:n.*1605G>T
ENST00000678378.1:n.1624G>T (THBS2)
ENST00000366787.7:c.2239G>T (THBS2)	ENSP00000355751.3:p.Asp747Tyr
ENST00000617924.4:c.2239G>T (THBS2)	ENSP00000482784.1:p.Asp747Tyr
NM_003247.3:c.2239G>T (THBS2)	NP_003238.2:p.Asp747Tyr
XR_943307.1:n.682-9633C>A (THBS2-AS1)
NR_134621.1:n.682-9633C>A (THBS2-AS1)
NM_003247.4:c.2239G>T (THBS2)	NP_003238.2:p.Asp747Tyr
NM_001381939.1:c.2065G>T (THBS2)	NP_001368868.1:p.Asp689Tyr
NM_001381942.1:c.2008G>T (THBS2)	NP_001368871.1:p.Asp670Tyr
NM_003247.5:c.2239G>T (THBS2) MANE Select	NP_003238.2:p.Asp747Tyr
NR_167744.1:n.2384G>T (THBS2)
NR_167745.1:n.2513G>T (THBS2)