Canonical Allele Identifier: CA4103047

Gene: THBS2 THBS2-AS1

Linked Data

• dbSNP Id: rs774531572
• ExAC: 6:169629675 C / T
• gnomAD v2: 6-169629675-C-T
• gnomAD v3: 6-169229580-C-T
• gnomAD v4: 6-169229580-C-T
• MyVariant Identifiers: chr6:g.169629675C>T (hg19) ; chr6:g.169229580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229580C>T , CM000668.2:g.169229580C>T	GRCh38
NC_000006.11:g.169629675C>T , CM000668.1:g.169629675C>T	GRCh37
NC_000006.10:g.169371600C>T	NCBI36
NG_022911.1:g.29463G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2251G>A (THBS2) MANE Select	ENSP00000482784.1:p.Asp751Asn
ENST00000649844.1:c.2266G>A (THBS2)	ENSP00000497834.1:p.Asp756Asn
ENST00000676498.1:c.2251G>A (THBS2)	ENSP00000504820.1:p.Asp751Asn
ENST00000676628.1:c.2077G>A (THBS2)	ENSP00000504416.1:p.Asp693Asn
ENST00000676760.1:c.2251G>A (THBS2)	ENSP00000503020.1:p.Asp751Asn
ENST00000676869.1:c.2080G>A (THBS2)	ENSP00000504488.1:p.Asp694Asn
ENST00000676941.1:c.1360G>A (THBS2)	ENSP00000503028.1:p.Asp454Asn
ENST00000677429.1:c.*1617G>A (THBS2)	ENSP00000503286.1:n.*1617G>A
ENST00000678378.1:n.1636G>A (THBS2)
ENST00000366787.7:c.2251G>A (THBS2)	ENSP00000355751.3:p.Asp751Asn
ENST00000617924.4:c.2251G>A (THBS2)	ENSP00000482784.1:p.Asp751Asn
NM_003247.3:c.2251G>A (THBS2)	NP_003238.2:p.Asp751Asn
XR_943307.1:n.682-9645C>T (THBS2-AS1)
NR_134621.1:n.682-9645C>T (THBS2-AS1)
NM_003247.4:c.2251G>A (THBS2)	NP_003238.2:p.Asp751Asn
NM_001381939.1:c.2077G>A (THBS2)	NP_001368868.1:p.Asp693Asn
NM_001381942.1:c.2020G>A (THBS2)	NP_001368871.1:p.Asp674Asn
NM_003247.5:c.2251G>A (THBS2) MANE Select	NP_003238.2:p.Asp751Asn
NR_167744.1:n.2396G>A (THBS2)
NR_167745.1:n.2525G>A (THBS2)