Canonical Allele Identifier: CA1681254996
Community Standard Title: NM_003247.5(THBS2):c.1478-8C=
Gene: THBS2 HGNC NCBI
THBS2-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.169234915G= , CM000668.2:g.169234915G= GRCh38
NC_000006.11:g.169635010G= , CM000668.1:g.169635010G= GRCh37
NC_000006.10:g.169376935G= NCBI36
NG_022911.1:g.24128C=

Transcript Alleles

HGVS Amino-acid Change
NM_003247.5:c.1478-8C= (THBS2) MANE Select NP_003238.2:n.1478-8C=
ENST00000617924.6:c.1478-8C= (THBS2) MANE Select ENSP00000482784.1:n.1478-8C=
NM_001381939.1:c.1478-1898C= (THBS2) NP_001368868.1:n.1478-1898C=
NM_001381940.1:c.1478-8C= (THBS2) NP_001368869.1:n.1478-8C=
NM_001381942.1:c.1247-8C= (THBS2) NP_001368871.1:n.1247-8C=
NM_003247.3:c.1478-8C= (THBS2) NP_003238.2:n.1478-8C=
NM_003247.4:c.1478-8C= (THBS2) NP_003238.2:n.1478-8C=
NR_134621.1:n.682-4310G= (THBS2-AS1)
NR_167744.1:n.1623-8C= (THBS2)
NR_167745.1:n.1752-8C= (THBS2)
ENST00000366787.7:c.1478-8C= (THBS2) ENSP00000355751.3:n.1478-8C=
ENST00000461848.1:n.244-8C= (THBS2)
ENST00000617924.4:c.1478-8C= (THBS2) ENSP00000482784.1:n.1478-8C=
ENST00000649844.1:c.1493-8C= (THBS2) ENSP00000497834.1:n.1493-8C=
ENST00000676498.1:c.1478-8C= (THBS2) ENSP00000504820.1:n.1478-8C=
ENST00000676628.1:c.1478-1898C= (THBS2) ENSP00000504416.1:n.1478-1898C=
ENST00000676760.1:c.1478-8C= (THBS2) ENSP00000503020.1:n.1478-8C=
ENST00000676869.1:c.1307-8C= (THBS2) ENSP00000504488.1:n.1307-8C=
ENST00000676941.1:c.587-8C= (THBS2) ENSP00000503028.1:n.587-8C=
ENST00000677398.1:n.1705-8C= (THBS2)
ENST00000677429.1:c.*844-8C= (THBS2) ENSP00000503286.1:n.*844-8C=
ENST00000678378.1:n.863-8C= (THBS2)
XR_943307.1:n.682-4310G= (THBS2-AS1)