Canonical Allele Identifier: CA17876425
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Linked Data

ClinVar Variation Id: 21471
ClinVar RCV Id: RCV003415726
dbSNP Id: rs80356737
MyVariant Identifiers: chr1:g.11082587dupA (hg19) chr1:g.11022530dupA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11022530dup , CM000663.2:g.11022530dup GRCh38
NC_000001.10:g.11082587dup , CM000663.1:g.11082587dup GRCh37
NC_000001.9:g.11005174dup NCBI36
NG_008734.1:g.14909dup , LRG_659:g.14909dup

Transcript Alleles

HGVS Amino-acid change
ENST00000700088.1:c.1397-337dup (MASP2) ENSP00000514787.1:n.1397-337dup
ENST00000240185.8:c.1121dup (TARDBP) MANE Select ENSP00000240185.4:p.Tyr374Ter
ENST00000639083.1:c.1121dup (TARDBP) ENSP00000491203.1:p.Tyr374Ter
ENST00000639599.1:c.832+289dup (TARDBP) ENSP00000492196.1:n.832+289dup
ENST00000649624.1:c.768+353dup (TARDBP) ENSP00000497327.1:n.768+353dup
ENST00000240185.7:c.1121dup (TARDBP) ENSP00000240185.3:p.Tyr374Ter
ENST00000315091.7:c.832+289dup (TARDBP) ENSP00000313129.3:n.832+289dup
ENST00000439080.6:c.*702dup (TARDBP) ENSP00000404666.3:n.*702dup
ENST00000473869.5:c.841+280dup (TARDBP) ENSP00000432132.1:n.841+280dup
ENST00000477447.6:c.140+280dup (TARDBP)
ENST00000610369.4:c.319+280dup (TARDBP) ENSP00000482559.1:n.319+280dup
ENST00000611136.4:c.212+289dup
ENST00000611963.4:c.472+289dup (TARDBP) ENSP00000481330.1:n.472+289dup
ENST00000612542.1:c.107+280dup
ENST00000614494.1:c.221+353dup (TARDBP)
ENST00000614757.4:c.841+280dup ENSP00000481867.1:n.841+280dup
ENST00000616545.4:c.841+280dup (TARDBP) ENSP00000484722.1:n.841+280dup
ENST00000617172.4:c.582+280dup (TARDBP)
ENST00000619555.4:c.392+280dup (TARDBP)
ENST00000620505.1:c.223dup (TARDBP)
ENST00000620632.4:c.392+280dup (TARDBP)
ENST00000621790.4:c.859+262dup (TARDBP) ENSP00000482191.1:n.859+262dup
ENST00000622057.4:c.579+289dup (TARDBP)
ENST00000629725.2:c.841+280dup (TARDBP) ENSP00000486989.1:n.841+280dup
NM_007375.3:c.1121dup , LRG_659t1:c.1121dup (TARDBP) NP_031401.1:p.Tyr374Ter
XR_946596.1:n.1243dup (TARDBP)
XR_946597.1:n.1243dup (TARDBP)
XM_017000863.2:c.1121dup (TARDBP) XP_016856352.1:p.Tyr374Ter
XM_017000864.2:c.1121dup (TARDBP) XP_016856353.1:p.Tyr374Ter
XM_017000865.2:c.1121dup (TARDBP) XP_016856354.1:p.Tyr374Ter
XM_017000866.2:c.1121dup (TARDBP) XP_016856355.1:p.Tyr374Ter
XM_017000867.2:c.1121dup (TARDBP) XP_016856356.1:p.Tyr374Ter
XM_017000868.2:c.1121dup (TARDBP) XP_016856357.1:p.Tyr374Ter
NM_007375.4:c.1121dup (TARDBP) MANE Select NP_031401.1:p.Tyr374Ter
Search 100 bp 5'
Search 100 bp 3'