Canonical Allele Identifier: CA1153468769
Gene: MASP2 HGNC NCBI
TARDBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11027292_11027309delinsAAATAGGCGTGATGTTGC , CM000663.2:g.11027292_11027309delinsAAATAGGCGTGATGTTGC GRCh38
NC_000001.10:g.11087349_11087366delinsAAATAGGCGTGATGTTGC , CM000663.1:g.11087349_11087366delinsAAATAGGCGTGATGTTGC GRCh37
NC_000001.9:g.11009936_11009953delinsAAATAGGCGTGATGTTGC NCBI36
NG_007289.1:g.24920_24937delinsGCAACATCACGCCTATTT
NG_008734.1:g.19671_19688delinsAAATAGGCGTGATGTTGC , LRG_659:g.19671_19688delinsAAATAGGCGTGATGTTGC
NG_007289.2:g.24920_24937delinsGCAACATCACGCCTATTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000699927.1:n.576_593delinsGCAACATCACGCCTATTT (MASP2)
ENST00000699958.1:c.1532_1549delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514717.1:p.Ser511=
ENST00000700088.1:c.1298-461_1298-444delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514787.1:n.1298-461_1298-444delinsGCAACATCACGCCTATTT...
ENST00000700089.1:c.1634_1651delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514788.1:n.1634_1651delinsGCAACATCACGCCTATTT
ENST00000700090.1:c.1516_1533delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514789.1:n.1516_1533delinsGCAACATCACGCCTATTT
ENST00000700091.1:c.1439_1456delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514790.1:p.Ser480=
ENST00000700092.1:c.1616_1633delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514791.1:p.Ser539=
ENST00000700093.1:c.1613_1630delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514792.1:p.Ser538=
ENST00000700094.1:c.1645_1662delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514793.1:n.1645_1662delinsGCAACATCACGCCTATTT
ENST00000700095.1:c.1298-461_1298-444delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514794.1:n.1298-461_1298-444delinsGCAACATCACGCCTATTT...
ENST00000700096.1:c.1101-461_1101-444delinsGCAACATCACGCCTATTT (MASP2) ENSP00000514795.1:n.1101-461_1101-444delinsGCAACATCACGCCTATTT...
ENST00000400897.8:c.1637_1654delinsGCAACATCACGCCTATTT (MASP2) MANE Select ENSP00000383690.3:p.Ser546=
ENST00000400897.7:c.1637_1654delinsGCAACATCACGCCTATTT (MASP2) ENSP00000383690.3:p.Ser546=
ENST00000611136.4:c.448+2084_448+2101delinsAAATAGGCGTGATGTTGC
ENST00000612542.1:c.206+2084_206+2101delinsAAATAGGCGTGATGTTGC
ENST00000614757.4:c.*452+2084_*452+2101delinsAAATAGGCGTGATGTTGC ENSP00000481867.1:n.*452+2084_*452+2101delinsAAATAGGCGTGATGTT...
ENST00000620028.1:n.416+2084_416+2101delinsAAATAGGCGTGATGTTGC
ENST00000622108.1:c.231+2084_231+2101delinsAAATAGGCGTGATGTTGC ENSP00000480398.1:n.231+2084_231+2101delinsAAATAGGCGTGATGTTGC...
NM_006610.3:c.1637_1654delinsGCAACATCACGCCTATTT (MASP2) NP_006601.2:p.Ser546=
XM_017000863.2:c.*3011+1627_*3011+1644delinsAAATAGGCGTGATGTTGC (TARDBP) XP_016856352.1:n.*3011+1627_*3011+1644delinsAAATAGGCGTGATGTTG...
XM_017000864.2:c.*1895+1627_*1895+1644delinsAAATAGGCGTGATGTTGC (TARDBP) XP_016856353.1:n.*1895+1627_*1895+1644delinsAAATAGGCGTGATGTTG...
XM_017000865.2:c.*1780+2084_*1780+2101delinsAAATAGGCGTGATGTTGC (TARDBP) XP_016856354.1:n.*1780+2084_*1780+2101delinsAAATAGGCGTGATGTTG...
NM_006610.4:c.1637_1654delinsGCAACATCACGCCTATTT (MASP2) MANE Select NP_006601.2:p.Ser546=