Canonical Allele Identifier: CA1144228671
Community Standard Title: NM_007375.4(TARDBP):c.*697G=
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11023351G= , CM000663.2:g.11023351G= GRCh38
NC_000001.10:g.11083408G= , CM000663.1:g.11083408G= GRCh37
NC_000001.9:g.11005995G= NCBI36
NG_008734.1:g.15730G= , LRG_659:g.15730G=

Transcript Alleles

HGVS Amino-acid Change
NM_007375.4:c.*697G= (TARDBP) MANE Select NP_031401.1:n.*697G=
ENST00000240185.8:c.*697G= (TARDBP) MANE Select ENSP00000240185.4:n.*697G=
NM_007375.3:c.*697G= , LRG_659t1:c.*697G= (TARDBP) NP_031401.1:n.*697G=
ENST00000240185.7:c.*697G= (TARDBP) ENSP00000240185.3:n.*697G=
ENST00000315091.7:c.*103G= (TARDBP) ENSP00000313129.3:n.*103G=
ENST00000473869.5:c.*81+22G= (TARDBP) ENSP00000432132.1:n.*81+22G=
ENST00000477447.6:c.277+22G= (TARDBP)
ENST00000496840.1:c.132+22G= (TARDBP) ENSP00000467020.1:n.132+22G=
ENST00000610369.4:c.386+22G= (TARDBP) ENSP00000482559.1:n.386+22G=
ENST00000611008.4:n.512+22G= (TARDBP)
ENST00000611136.4:c.349+22G=
ENST00000611963.4:c.609+22G= (TARDBP) ENSP00000481330.1:n.609+22G=
ENST00000612542.1:c.107+1101G=
ENST00000613177.1:n.285+22G= (TARDBP)
ENST00000614494.1:c.395+22G= (TARDBP)
ENST00000614757.4:c.*81+22G= ENSP00000481867.1:n.*81+22G=
ENST00000617172.4:c.741G= (TARDBP)
ENST00000617757.1:n.29G= (TARDBP)
ENST00000619555.4:c.561+22G= (TARDBP)
ENST00000620505.1:c.545+22G= (TARDBP)
ENST00000620632.4:c.529+22G= (TARDBP)
ENST00000621573.1:c.782+22G= (TARDBP)
ENST00000622108.1:c.132+22G= ENSP00000480398.1:n.132+22G=
ENST00000639083.1:c.*697G= (TARDBP) ENSP00000491203.1:n.*697G=
ENST00000639599.1:c.*81+22G= (TARDBP) ENSP00000492196.1:n.*81+22G=
ENST00000700088.1:c.1397-1158C= (MASP2) ENSP00000514787.1:n.1397-1158C=
XM_017000863.2:c.*697G= (TARDBP) XP_016856352.1:n.*697G=
XM_017000864.2:c.*697G= (TARDBP) XP_016856353.1:n.*697G=
XM_017000865.2:c.*697G= (TARDBP) XP_016856354.1:n.*697G=
XM_017000866.2:c.*675+22G= (TARDBP) XP_016856355.1:n.*675+22G=
XM_017000867.2:c.*675+22G= (TARDBP) XP_016856356.1:n.*675+22G=
XM_017000868.2:c.*675+22G= (TARDBP) XP_016856357.1:n.*675+22G=
XR_946596.1:n.2042+22G= (TARDBP)
XR_946597.1:n.2042+22G= (TARDBP)