Canonical Allele Identifier: CA2643225775

Gene: MASP2 TARDBP

Linked Data

• gnomAD v4: 1-11027501-G-GCAAAACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027503_11027504insAAACCCA , CM000663.2:g.11027503_11027504insAAACCCA	GRCh38
NC_000001.10:g.11087560_11087561insAAACCCA , CM000663.1:g.11087560_11087561insAAACCCA	GRCh37
NC_000001.9:g.11010147_11010148insAAACCCA	NCBI36
NG_007289.1:g.24727_24728insGGTTTTG
NG_007289.2:g.24727_24728insGGTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.383_384insGGTTTTG (MASP2)
ENST00000699958.1:c.1339_1340insGGTTTTG (MASP2)	ENSP00000514717.1:p.Ala447GlyfsTer8
ENST00000700088.1:c.1298-654_1298-653insGGTTTTG (MASP2)	ENSP00000514787.1:n.1298-654_1298-653insGGTTTTG
ENST00000700089.1:c.1441_1442insGGTTTTG (MASP2)	ENSP00000514788.1:n.1441_1442insGGTTTTG
ENST00000700090.1:c.1323_1324insGGTTTTG (MASP2)	ENSP00000514789.1:n.1323_1324insGGTTTTG
ENST00000700091.1:c.1246_1247insGGTTTTG (MASP2)	ENSP00000514790.1:p.Ala416GlyfsTer8
ENST00000700092.1:c.1423_1424insGGTTTTG (MASP2)	ENSP00000514791.1:p.Ala475GlyfsTer8
ENST00000700093.1:c.1420_1421insGGTTTTG (MASP2)	ENSP00000514792.1:p.Ala474GlyfsTer8
ENST00000700094.1:c.1452_1453insGGTTTTG (MASP2)	ENSP00000514793.1:n.1452_1453insGGTTTTG
ENST00000700095.1:c.1298-654_1298-653insGGTTTTG (MASP2)	ENSP00000514794.1:n.1298-654_1298-653insGGTTTTG
ENST00000700096.1:c.1101-654_1101-653insGGTTTTG (MASP2)	ENSP00000514795.1:n.1101-654_1101-653insGGTTTTG
ENST00000700097.1:c.1472_1473insGGTTTTG (MASP2)	ENSP00000514796.1:n.1472_1473insGGTTTTG
ENST00000400897.8:c.1444_1445insGGTTTTG (MASP2) MANE Select	ENSP00000383690.3:p.Ala482GlyfsTer8
ENST00000400897.7:c.1444_1445insGGTTTTG (MASP2)	ENSP00000383690.3:p.Ala482GlyfsTer8
ENST00000611136.4:c.448+2295_448+2296insAAACCCA
ENST00000612542.1:c.206+2295_206+2296insAAACCCA
ENST00000614757.4:c.*452+2295_*452+2296insAAACCCA	ENSP00000481867.1:n.*452+2295_*452+2296insAAACCCA
ENST00000620028.1:n.416+2295_416+2296insAAACCCA
ENST00000622108.1:c.232-2184_232-2183insAAACCCA	ENSP00000480398.1:n.232-2184_232-2183insAAACCCA
NM_006610.3:c.1444_1445insGGTTTTG (MASP2)	NP_006601.2:p.Ala482GlyfsTer8
XM_017000863.2:c.*3011+1838_*3011+1839insAAACCCA (TARDBP)	XP_016856352.1:n.*3011+1838_*3011+1839insAAACCCA
XM_017000864.2:c.*1895+1838_*1895+1839insAAACCCA (TARDBP)	XP_016856353.1:n.*1895+1838_*1895+1839insAAACCCA
XM_017000865.2:c.*1781-2184_*1781-2183insAAACCCA (TARDBP)	XP_016856354.1:n.*1781-2184_*1781-2183insAAACCCA
NM_006610.4:c.1444_1445insGGTTTTG (MASP2) MANE Select	NP_006601.2:p.Ala482GlyfsTer8