Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.169229532_169229533delinsCT , CM000668.2:g.169229532_169229533delinsCT	GRCh38
NC_000006.11:g.169629627_169629628delinsCT , CM000668.1:g.169629627_169629628delinsCT	GRCh37
NC_000006.10:g.169371552_169371553delinsCT	NCBI36
NG_022911.1:g.29510_29511delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617924.6:c.2259+39_2259+40delinsAG (THBS2) MANE Select	ENSP00000482784.1:n.2259+39_2259+40delinsAG
ENST00000649844.1:c.2274+39_2274+40delinsAG (THBS2)	ENSP00000497834.1:n.2274+39_2274+40delinsAG
ENST00000676498.1:c.2259+39_2259+40delinsAG (THBS2)	ENSP00000504820.1:n.2259+39_2259+40delinsAG
ENST00000676628.1:c.2085+39_2085+40delinsAG (THBS2)	ENSP00000504416.1:n.2085+39_2085+40delinsAG
ENST00000676760.1:c.2259+39_2259+40delinsAG (THBS2)	ENSP00000503020.1:n.2259+39_2259+40delinsAG
ENST00000676869.1:c.2088+39_2088+40delinsAG (THBS2)	ENSP00000504488.1:n.2088+39_2088+40delinsAG
ENST00000676941.1:c.1368+39_1368+40delinsAG (THBS2)	ENSP00000503028.1:n.1368+39_1368+40delinsAG
ENST00000677429.1:c.1625+39_1625+40delinsAG (THBS2)	ENSP00000503286.1:n.1625+39_1625+40delinsAG
ENST00000678378.1:n.1644+39_1644+40delinsAG (THBS2)
ENST00000366787.7:c.2259+39_2259+40delinsAG (THBS2)	ENSP00000355751.3:n.2259+39_2259+40delinsAG
ENST00000617924.4:c.2259+39_2259+40delinsAG (THBS2)	ENSP00000482784.1:n.2259+39_2259+40delinsAG
NM_003247.3:c.2259+39_2259+40delinsAG (THBS2)	NP_003238.2:n.2259+39_2259+40delinsAG
XR_943307.1:n.682-9693_682-9692delinsCT (THBS2-AS1)
NR_134621.1:n.682-9693_682-9692delinsCT (THBS2-AS1)
NM_003247.4:c.2259+39_2259+40delinsAG (THBS2)	NP_003238.2:n.2259+39_2259+40delinsAG
NM_001381939.1:c.2085+39_2085+40delinsAG (THBS2)	NP_001368868.1:n.2085+39_2085+40delinsAG
NM_001381942.1:c.2028+39_2028+40delinsAG (THBS2)	NP_001368871.1:n.2028+39_2028+40delinsAG
NM_003247.5:c.2259+39_2259+40delinsAG (THBS2) MANE Select	NP_003238.2:n.2259+39_2259+40delinsAG
NR_167744.1:n.2404+39_2404+40delinsAG (THBS2)
NR_167745.1:n.2533+39_2533+40delinsAG (THBS2)