Canonical Allele Identifier: CA366460185

Gene: THBS2 THBS2-AS1

Linked Data

• dbSNP Id: rs1350882950
• gnomAD v2: 6-169629774-C-T
• COSMIC: COSM131372
• MyVariant Identifiers: chr6:g.169629774C>T (hg19) ; chr6:g.169229679C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229679C>T , CM000668.2:g.169229679C>T	GRCh38
NC_000006.11:g.169629774C>T , CM000668.1:g.169629774C>T	GRCh37
NC_000006.10:g.169371699C>T	NCBI36
NG_022911.1:g.29364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2152G>A (THBS2) MANE Select	ENSP00000482784.1:p.Asp718Asn
ENST00000649844.1:c.2167G>A (THBS2)	ENSP00000497834.1:p.Asp723Asn
ENST00000676498.1:c.2152G>A (THBS2)	ENSP00000504820.1:p.Asp718Asn
ENST00000676628.1:c.1978G>A (THBS2)	ENSP00000504416.1:p.Asp660Asn
ENST00000676760.1:c.2152G>A (THBS2)	ENSP00000503020.1:p.Asp718Asn
ENST00000676869.1:c.1981G>A (THBS2)	ENSP00000504488.1:p.Asp661Asn
ENST00000676941.1:c.1261G>A (THBS2)	ENSP00000503028.1:p.Asp421Asn
ENST00000677429.1:c.*1518G>A (THBS2)	ENSP00000503286.1:n.*1518G>A
ENST00000678378.1:n.1537G>A (THBS2)
ENST00000366787.7:c.2152G>A (THBS2)	ENSP00000355751.3:p.Asp718Asn
ENST00000617924.4:c.2152G>A (THBS2)	ENSP00000482784.1:p.Asp718Asn
NM_003247.3:c.2152G>A (THBS2)	NP_003238.2:p.Asp718Asn
XR_943307.1:n.682-9546C>T (THBS2-AS1)
NR_134621.1:n.682-9546C>T (THBS2-AS1)
NM_003247.4:c.2152G>A (THBS2)	NP_003238.2:p.Asp718Asn
NM_001381939.1:c.1978G>A (THBS2)	NP_001368868.1:p.Asp660Asn
NM_001381942.1:c.1921G>A (THBS2)	NP_001368871.1:p.Asp641Asn
NM_003247.5:c.2152G>A (THBS2) MANE Select	NP_003238.2:p.Asp718Asn
NR_167744.1:n.2297G>A (THBS2)
NR_167745.1:n.2426G>A (THBS2)