Canonical Allele Identifier: CA1153489993
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11022100G= , CM000663.2:g.11022100G= GRCh38
NC_000001.10:g.11082157G= , CM000663.1:g.11082157G= GRCh37
NC_000001.9:g.11004744G= NCBI36
NG_008734.1:g.14479G= , LRG_659:g.14479G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000700088.1:c.1490C= (MASP2) ENSP00000514787.1:n.1490C=
ENST00000240185.8:c.715-24G= (TARDBP) MANE Select ENSP00000240185.4:n.715-24G=
ENST00000639083.1:c.715-24G= (TARDBP) ENSP00000491203.1:n.715-24G=
ENST00000639599.1:c.715-24G= (TARDBP) ENSP00000492196.1:n.715-24G=
ENST00000649624.1:c.715-24G= (TARDBP) ENSP00000497327.1:n.715-24G=
ENST00000240185.7:c.715-24G= (TARDBP) ENSP00000240185.3:n.715-24G=
ENST00000315091.7:c.715-24G= (TARDBP) ENSP00000313129.3:n.715-24G=
ENST00000439080.6:c.*296-24G= (TARDBP) ENSP00000404666.3:n.*296-24G=
ENST00000472476.5:c.*604-24G= (TARDBP) ENSP00000465080.1:n.*604-24G=
ENST00000473869.5:c.715-24G= (TARDBP) ENSP00000432132.1:n.715-24G=
ENST00000477447.6:c.14-24G= (TARDBP)
ENST00000610369.4:c.193-24G= (TARDBP) ENSP00000482559.1:n.193-24G=
ENST00000611136.4:c.95-24G=
ENST00000611963.4:c.355-24G= (TARDBP) ENSP00000481330.1:n.355-24G=
ENST00000614494.1:c.168-24G= (TARDBP)
ENST00000614757.4:c.715-24G= ENSP00000481867.1:n.715-24G=
ENST00000616545.4:c.715-24G= (TARDBP) ENSP00000484722.1:n.715-24G=
ENST00000617172.4:c.456-24G= (TARDBP)
ENST00000619555.4:c.266-24G= (TARDBP)
ENST00000620632.4:c.266-24G= (TARDBP)
ENST00000621715.4:c.544-24G= (TARDBP) ENSP00000480690.1:n.544-24G=
ENST00000621790.4:c.715-24G= (TARDBP) ENSP00000482191.1:n.715-24G=
ENST00000622057.4:c.462-24G= (TARDBP)
ENST00000629725.2:c.715-24G= (TARDBP) ENSP00000486989.1:n.715-24G=
NM_007375.3:c.715-24G= , LRG_659t1:c.715-24G= (TARDBP) NP_031401.1:n.715-24G=
XR_946596.1:n.837-24G= (TARDBP)
XR_946597.1:n.837-24G= (TARDBP)
XM_017000863.2:c.715-24G= (TARDBP) XP_016856352.1:n.715-24G=
XM_017000864.2:c.715-24G= (TARDBP) XP_016856353.1:n.715-24G=
XM_017000865.2:c.715-24G= (TARDBP) XP_016856354.1:n.715-24G=
XM_017000866.2:c.715-24G= (TARDBP) XP_016856355.1:n.715-24G=
XM_017000867.2:c.715-24G= (TARDBP) XP_016856356.1:n.715-24G=
XM_017000868.2:c.715-24G= (TARDBP) XP_016856357.1:n.715-24G=
NM_007375.4:c.715-24G= (TARDBP) MANE Select NP_031401.1:n.715-24G=