Canonical Allele Identifier: CA4103060

Gene: THBS2 THBS2-AS1

Linked Data

• dbSNP Id: rs750010051
• ExAC: 6:169629712 A / G
• MyVariant Identifiers: chr6:g.169629712A>G (hg19) ; chr6:g.169229617A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229617A>G , CM000668.2:g.169229617A>G	GRCh38
NC_000006.11:g.169629712A>G , CM000668.1:g.169629712A>G	GRCh37
NC_000006.10:g.169371637A>G	NCBI36
NG_022911.1:g.29426T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2214T>C (THBS2) MANE Select	ENSP00000482784.1:p.Asp738=
ENST00000649844.1:c.2229T>C (THBS2)	ENSP00000497834.1:p.Asp743=
ENST00000676498.1:c.2214T>C (THBS2)	ENSP00000504820.1:p.Asp738=
ENST00000676628.1:c.2040T>C (THBS2)	ENSP00000504416.1:p.Asp680=
ENST00000676760.1:c.2214T>C (THBS2)	ENSP00000503020.1:p.Asp738=
ENST00000676869.1:c.2043T>C (THBS2)	ENSP00000504488.1:p.Asp681=
ENST00000676941.1:c.1323T>C (THBS2)	ENSP00000503028.1:p.Asp441=
ENST00000677429.1:c.*1580T>C (THBS2)	ENSP00000503286.1:n.*1580T>C
ENST00000678378.1:n.1599T>C (THBS2)
ENST00000366787.7:c.2214T>C (THBS2)	ENSP00000355751.3:p.Asp738=
ENST00000617924.4:c.2214T>C (THBS2)	ENSP00000482784.1:p.Asp738=
NM_003247.3:c.2214T>C (THBS2)	NP_003238.2:p.Asp738=
XR_943307.1:n.682-9608A>G (THBS2-AS1)
NR_134621.1:n.682-9608A>G (THBS2-AS1)
NM_003247.4:c.2214T>C (THBS2)	NP_003238.2:p.Asp738=
NM_001381939.1:c.2040T>C (THBS2)	NP_001368868.1:p.Asp680=
NM_001381942.1:c.1983T>C (THBS2)	NP_001368871.1:p.Asp661=
NM_003247.5:c.2214T>C (THBS2) MANE Select	NP_003238.2:p.Asp738=
NR_167744.1:n.2359T>C (THBS2)
NR_167745.1:n.2488T>C (THBS2)