Canonical Allele Identifier: CA366460138

Gene: THBS2 THBS2-AS1

Linked Data

• MyVariant Identifiers: chr6:g.169629755G>A (hg19) ; chr6:g.169229660G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229660G>A , CM000668.2:g.169229660G>A	GRCh38
NC_000006.11:g.169629755G>A , CM000668.1:g.169629755G>A	GRCh37
NC_000006.10:g.169371680G>A	NCBI36
NG_022911.1:g.29383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2171C>T (THBS2) MANE Select	ENSP00000482784.1:p.Pro724Leu
ENST00000649844.1:c.2186C>T (THBS2)	ENSP00000497834.1:p.Pro729Leu
ENST00000676498.1:c.2171C>T (THBS2)	ENSP00000504820.1:p.Pro724Leu
ENST00000676628.1:c.1997C>T (THBS2)	ENSP00000504416.1:p.Pro666Leu
ENST00000676760.1:c.2171C>T (THBS2)	ENSP00000503020.1:p.Pro724Leu
ENST00000676869.1:c.2000C>T (THBS2)	ENSP00000504488.1:p.Pro667Leu
ENST00000676941.1:c.1280C>T (THBS2)	ENSP00000503028.1:p.Pro427Leu
ENST00000677429.1:c.*1537C>T (THBS2)	ENSP00000503286.1:n.*1537C>T
ENST00000678378.1:n.1556C>T (THBS2)
ENST00000366787.7:c.2171C>T (THBS2)	ENSP00000355751.3:p.Pro724Leu
ENST00000617924.4:c.2171C>T (THBS2)	ENSP00000482784.1:p.Pro724Leu
NM_003247.3:c.2171C>T (THBS2)	NP_003238.2:p.Pro724Leu
XR_943307.1:n.682-9565G>A (THBS2-AS1)
NR_134621.1:n.682-9565G>A (THBS2-AS1)
NM_003247.4:c.2171C>T (THBS2)	NP_003238.2:p.Pro724Leu
NM_001381939.1:c.1997C>T (THBS2)	NP_001368868.1:p.Pro666Leu
NM_001381942.1:c.1940C>T (THBS2)	NP_001368871.1:p.Pro647Leu
NM_003247.5:c.2171C>T (THBS2) MANE Select	NP_003238.2:p.Pro724Leu
NR_167744.1:n.2316C>T (THBS2)
NR_167745.1:n.2445C>T (THBS2)