Canonical Allele Identifier: CA1153468992

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs1643756590

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027434_11027435insGAC , CM000663.2:g.11027434_11027435insGAC	GRCh38
NC_000001.10:g.11087491_11087492insGAC , CM000663.1:g.11087491_11087492insGAC	GRCh37
NC_000001.9:g.11010078_11010079insGAC	NCBI36
NG_007289.1:g.24794_24795insGTC
NG_008734.1:g.19813_19814insGAC , LRG_659:g.19813_19814insGAC
NG_007289.2:g.24794_24795insGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.450_451insGTC (MASP2)
ENST00000699958.1:c.1406_1407insGTC (MASP2)	ENSP00000514717.1:p.Arg469_Leu470insSer
ENST00000700088.1:c.1298-587_1298-586insGTC (MASP2)	ENSP00000514787.1:n.1298-587_1298-586insGTC
ENST00000700089.1:c.1508_1509insGTC (MASP2)	ENSP00000514788.1:n.1508_1509insGTC
ENST00000700090.1:c.1390_1391insGTC (MASP2)	ENSP00000514789.1:n.1390_1391insGTC
ENST00000700091.1:c.1313_1314insGTC (MASP2)	ENSP00000514790.1:p.Arg438_Leu439insSer
ENST00000700092.1:c.1490_1491insGTC (MASP2)	ENSP00000514791.1:p.Arg497_Leu498insSer
ENST00000700093.1:c.1487_1488insGTC (MASP2)	ENSP00000514792.1:p.Arg496_Leu497insSer
ENST00000700094.1:c.1519_1520insGTC (MASP2)	ENSP00000514793.1:n.1519_1520insGTC
ENST00000700095.1:c.1298-587_1298-586insGTC (MASP2)	ENSP00000514794.1:n.1298-587_1298-586insGTC
ENST00000700096.1:c.1101-587_1101-586insGTC (MASP2)	ENSP00000514795.1:n.1101-587_1101-586insGTC
ENST00000700097.1:c.1539_1540insGTC (MASP2)	ENSP00000514796.1:n.1539_1540insGTC
ENST00000400897.8:c.1511_1512insGTC (MASP2) MANE Select	ENSP00000383690.3:p.Arg504_Leu505insSer
ENST00000400897.7:c.1511_1512insGTC (MASP2)	ENSP00000383690.3:p.Arg504_Leu505insSer
ENST00000611136.4:c.448+2226_448+2227insGAC
ENST00000612542.1:c.206+2226_206+2227insGAC
ENST00000614757.4:c.*452+2226_*452+2227insGAC	ENSP00000481867.1:n.*452+2226_*452+2227insGAC
ENST00000620028.1:n.416+2226_416+2227insGAC
ENST00000622108.1:c.231+2226_231+2227insGAC	ENSP00000480398.1:n.231+2226_231+2227insGAC
NM_006610.3:c.1511_1512insGTC (MASP2)	NP_006601.2:p.Arg504_Leu505insSer
XM_017000863.2:c.*3011+1769_*3011+1770insGAC (TARDBP)	XP_016856352.1:n.*3011+1769_*3011+1770insGAC
XM_017000864.2:c.*1895+1769_*1895+1770insGAC (TARDBP)	XP_016856353.1:n.*1895+1769_*1895+1770insGAC
XM_017000865.2:c.*1780+2226_*1780+2227insGAC (TARDBP)	XP_016856354.1:n.*1780+2226_*1780+2227insGAC
NM_006610.4:c.1511_1512insGTC (MASP2) MANE Select	NP_006601.2:p.Arg504_Leu505insSer