Canonical Allele Identifier: CA117346
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

ClinVar Variation Id: 5238
ClinVar RCV Id: RCV000005549
dbSNP Id: rs267607102

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11022196A>G , CM000663.2:g.11022196A>G GRCh38
NC_000001.10:g.11082253A>G , CM000663.1:g.11082253A>G GRCh37
NC_000001.9:g.11004840A>G NCBI36
NG_008734.1:g.14575A>G , LRG_659:g.14575A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700088.1:c.1397-3T>C (MASP2) ENSP00000514787.1:n.1397-3T>C
ENST00000240185.8:c.787A>G (TARDBP) MANE Select ENSP00000240185.4:p.Lys263Glu
ENST00000639083.1:c.787A>G (TARDBP) ENSP00000491203.1:p.Lys263Glu
ENST00000639599.1:c.787A>G (TARDBP) ENSP00000492196.1:p.Lys263Glu
ENST00000649624.1:c.768+19A>G (TARDBP) ENSP00000497327.1:n.768+19A>G
ENST00000240185.7:c.787A>G (TARDBP) ENSP00000240185.3:p.Lys263Glu
ENST00000315091.7:c.787A>G (TARDBP) ENSP00000313129.3:p.Lys263Glu
ENST00000439080.6:c.*368A>G (TARDBP) ENSP00000404666.3:n.*368A>G
ENST00000473869.5:c.787A>G (TARDBP) ENSP00000432132.1:p.Lys263Glu
ENST00000477447.6:c.86A>G (TARDBP)
ENST00000610369.4:c.265A>G (TARDBP) ENSP00000482559.1:p.Lys89Glu
ENST00000611136.4:c.167A>G
ENST00000611963.4:c.427A>G (TARDBP) ENSP00000481330.1:p.Lys143Glu
ENST00000612542.1:c.53A>G
ENST00000614494.1:c.221+19A>G (TARDBP)
ENST00000614757.4:c.787A>G ENSP00000481867.1:p.Lys263Glu
ENST00000616545.4:c.787A>G (TARDBP) ENSP00000484722.1:p.Lys263Glu
ENST00000617172.4:c.528A>G (TARDBP)
ENST00000619555.4:c.338A>G (TARDBP)
ENST00000620632.4:c.338A>G (TARDBP)
ENST00000621715.4:c.616A>G (TARDBP) ENSP00000480690.1:p.Lys206Glu
ENST00000621790.4:c.787A>G (TARDBP) ENSP00000482191.1:p.Lys263Glu
ENST00000622057.4:c.534A>G (TARDBP)
ENST00000629725.2:c.787A>G (TARDBP) ENSP00000486989.1:p.Lys263Glu
NM_007375.3:c.787A>G , LRG_659t1:c.787A>G (TARDBP) NP_031401.1:p.Lys263Glu
XR_946596.1:n.909A>G (TARDBP)
XR_946597.1:n.909A>G (TARDBP)
XM_017000863.2:c.787A>G (TARDBP) XP_016856352.1:p.Lys263Glu
XM_017000864.2:c.787A>G (TARDBP) XP_016856353.1:p.Lys263Glu
XM_017000865.2:c.787A>G (TARDBP) XP_016856354.1:p.Lys263Glu
XM_017000866.2:c.787A>G (TARDBP) XP_016856355.1:p.Lys263Glu
XM_017000867.2:c.787A>G (TARDBP) XP_016856356.1:p.Lys263Glu
XM_017000868.2:c.787A>G (TARDBP) XP_016856357.1:p.Lys263Glu
NM_007375.4:c.787A>G (TARDBP) MANE Select NP_031401.1:p.Lys263Glu