Canonical Allele Identifier: CA1153468911

Gene: MASP2 TARDBP

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027358_11027359delinsCA , CM000663.2:g.11027358_11027359delinsCA	GRCh38
NC_000001.10:g.11087415_11087416delinsCA , CM000663.1:g.11087415_11087416delinsCA	GRCh37
NC_000001.9:g.11010002_11010003delinsCA	NCBI36
NG_007289.1:g.24870_24871delinsTG
NG_008734.1:g.19737_19738delinsCA , LRG_659:g.19737_19738delinsCA
NG_007289.2:g.24870_24871delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.526_527delinsTG (MASP2)
ENST00000699958.1:c.1482_1483delinsTG (MASP2)	ENSP00000514717.1:p.Phe494=
ENST00000700088.1:c.1298-511_1298-510delinsTG (MASP2)	ENSP00000514787.1:n.1298-511_1298-510delinsTG
ENST00000700089.1:c.1584_1585delinsTG (MASP2)	ENSP00000514788.1:n.1584_1585delinsTG
ENST00000700090.1:c.1466_1467delinsTG (MASP2)	ENSP00000514789.1:n.1466_1467delinsTG
ENST00000700091.1:c.1389_1390delinsTG (MASP2)	ENSP00000514790.1:p.Phe463=
ENST00000700092.1:c.1566_1567delinsTG (MASP2)	ENSP00000514791.1:p.Phe522=
ENST00000700093.1:c.1563_1564delinsTG (MASP2)	ENSP00000514792.1:p.Phe521=
ENST00000700094.1:c.1595_1596delinsTG (MASP2)	ENSP00000514793.1:n.1595_1596delinsTG
ENST00000700095.1:c.1298-511_1298-510delinsTG (MASP2)	ENSP00000514794.1:n.1298-511_1298-510delinsTG
ENST00000700096.1:c.1101-511_1101-510delinsTG (MASP2)	ENSP00000514795.1:n.1101-511_1101-510delinsTG
ENST00000700097.1:c.1615_1616delinsTG (MASP2)	ENSP00000514796.1:n.1615_1616delinsTG
ENST00000400897.8:c.1587_1588delinsTG (MASP2) MANE Select	ENSP00000383690.3:p.Phe529=
ENST00000400897.7:c.1587_1588delinsTG (MASP2)	ENSP00000383690.3:p.Phe529=
ENST00000611136.4:c.448+2150_448+2151delinsCA
ENST00000612542.1:c.206+2150_206+2151delinsCA
ENST00000614757.4:c.*452+2150_*452+2151delinsCA	ENSP00000481867.1:n.*452+2150_*452+2151delinsCA
ENST00000620028.1:n.416+2150_416+2151delinsCA
ENST00000622108.1:c.231+2150_231+2151delinsCA	ENSP00000480398.1:n.231+2150_231+2151delinsCA
NM_006610.3:c.1587_1588delinsTG (MASP2)	NP_006601.2:p.Phe529=
XM_017000863.2:c.*3011+1693_*3011+1694delinsCA (TARDBP)	XP_016856352.1:n.*3011+1693_*3011+1694delinsCA
XM_017000864.2:c.*1895+1693_*1895+1694delinsCA (TARDBP)	XP_016856353.1:n.*1895+1693_*1895+1694delinsCA
XM_017000865.2:c.*1780+2150_*1780+2151delinsCA (TARDBP)	XP_016856354.1:n.*1780+2150_*1780+2151delinsCA
NM_006610.4:c.1587_1588delinsTG (MASP2) MANE Select	NP_006601.2:p.Phe529=