Canonical Allele Identifier: CA586675

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs745980612
• ExAC: 1:11087595 C / CCGCCTTGAAGTATATATT
• MyVariant Identifiers: chr1:g.11087595_11087596insCGCCTTGAAGTATATATT (hg19) ; chr1:g.11027538_11027539insCGCCTTGAAGTATATATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027538_11027539insCGCCTTGAAGTATATATT , CM000663.2:g.11027538_11027539insCGCCTTGAAGTATATATT	GRCh38
NC_000001.10:g.11087595_11087596insCGCCTTGAAGTATATATT , CM000663.1:g.11087595_11087596insCGCCTTGAAGTATATATT	GRCh37
NC_000001.9:g.11010182_11010183insCGCCTTGAAGTATATATT	NCBI36
NG_007289.1:g.24690_24691insAATATATACTTCAAGGCG
NG_007289.2:g.24690_24691insAATATATACTTCAAGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.346_347insAATATATACTTCAAGGCG (MASP2)
ENST00000699958.1:c.1302_1303insAATATATACTTCAAGGCG (MASP2)	ENSP00000514717.1:p.Ala434_Gly435insAsnIleTyrPheLysAla
ENST00000700088.1:c.1298-691_1298-690insAATATATACTTCAAGGCG (MASP2)	ENSP00000514787.1:n.1298-691_1298-690insAATATATACTTCAAGGCG
ENST00000700089.1:c.1404_1405insAATATATACTTCAAGGCG (MASP2)	ENSP00000514788.1:n.1404_1405insAATATATACTTCAAGGCG
ENST00000700090.1:c.1286_1287insAATATATACTTCAAGGCG (MASP2)	ENSP00000514789.1:n.1286_1287insAATATATACTTCAAGGCG
ENST00000700091.1:c.1209_1210insAATATATACTTCAAGGCG (MASP2)	ENSP00000514790.1:p.Ala403_Gly404insAsnIleTyrPheLysAla
ENST00000700092.1:c.1386_1387insAATATATACTTCAAGGCG (MASP2)	ENSP00000514791.1:p.Ala462_Gly463insAsnIleTyrPheLysAla
ENST00000700093.1:c.1383_1384insAATATATACTTCAAGGCG (MASP2)	ENSP00000514792.1:p.Ala461_Gly462insAsnIleTyrPheLysAla
ENST00000700094.1:c.1415_1416insAATATATACTTCAAGGCG (MASP2)	ENSP00000514793.1:n.1415_1416insAATATATACTTCAAGGCG
ENST00000700095.1:c.1298-691_1298-690insAATATATACTTCAAGGCG (MASP2)	ENSP00000514794.1:n.1298-691_1298-690insAATATATACTTCAAGGCG
ENST00000700096.1:c.1101-691_1101-690insAATATATACTTCAAGGCG (MASP2)	ENSP00000514795.1:n.1101-691_1101-690insAATATATACTTCAAGGCG
ENST00000700097.1:c.1435_1436insAATATATACTTCAAGGCG (MASP2)	ENSP00000514796.1:n.1435_1436insAATATATACTTCAAGGCG
ENST00000400897.8:c.1407_1408insAATATATACTTCAAGGCG (MASP2) MANE Select	ENSP00000383690.3:p.Ala469_Gly470insAsnIleTyrPheLysAla
ENST00000400897.7:c.1407_1408insAATATATACTTCAAGGCG (MASP2)	ENSP00000383690.3:p.Ala469_Gly470insAsnIleTyrPheLysAla
ENST00000611136.4:c.448+2330_448+2331insCGCCTTGAAGTATATATT
ENST00000612542.1:c.206+2330_206+2331insCGCCTTGAAGTATATATT
ENST00000614757.4:c.*452+2330_*452+2331insCGCCTTGAAGTATATATT	ENSP00000481867.1:n.*452+2330_*452+2331insCGCCTTGAAGTATATATT
ENST00000620028.1:n.416+2330_416+2331insCGCCTTGAAGTATATATT
ENST00000622108.1:c.232-2149_232-2148insCGCCTTGAAGTATATATT	ENSP00000480398.1:n.232-2149_232-2148insCGCCTTGAAGTATATATT
NM_006610.3:c.1407_1408insAATATATACTTCAAGGCG (MASP2)	NP_006601.2:p.Ala469_Gly470insAsnIleTyrPheLysAla
XM_017000863.2:c.*3011+1873_*3011+1874insCGCCTTGAAGTATATATT (TARDBP)	XP_016856352.1:n.*3011+1873_*3011+1874insCGCCTTGAAGTATATATT
XM_017000864.2:c.*1895+1873_*1895+1874insCGCCTTGAAGTATATATT (TARDBP)	XP_016856353.1:n.*1895+1873_*1895+1874insCGCCTTGAAGTATATATT
XM_017000865.2:c.*1781-2149_*1781-2148insCGCCTTGAAGTATATATT (TARDBP)	XP_016856354.1:n.*1781-2149_*1781-2148insCGCCTTGAAGTATATATT
NM_006610.4:c.1407_1408insAATATATACTTCAAGGCG (MASP2) MANE Select	NP_006601.2:p.Ala469_Gly470insAsnIleTyrPheLysAla