Canonical Allele Identifier: CA338375460

Gene: MASP2 TARDBP

Linked Data

• MyVariant Identifiers: chr1:g.11087606G>C (hg19) ; chr1:g.11027549G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11027549G>C , CM000663.2:g.11027549G>C	GRCh38
NC_000001.10:g.11087606G>C , CM000663.1:g.11087606G>C	GRCh37
NC_000001.9:g.11010193G>C	NCBI36
NG_007289.1:g.24680C>G
NG_007289.2:g.24680C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699927.1:n.336C>G (MASP2)
ENST00000699958.1:c.1292C>G (MASP2)	ENSP00000514717.1:p.Thr431Ser
ENST00000700088.1:c.1298-701C>G (MASP2)	ENSP00000514787.1:n.1298-701C>G
ENST00000700089.1:c.1394C>G (MASP2)	ENSP00000514788.1:n.1394C>G
ENST00000700090.1:c.1276C>G (MASP2)	ENSP00000514789.1:n.1276C>G
ENST00000700091.1:c.1199C>G (MASP2)	ENSP00000514790.1:p.Thr400Ser
ENST00000700092.1:c.1376C>G (MASP2)	ENSP00000514791.1:p.Thr459Ser
ENST00000700093.1:c.1373C>G (MASP2)	ENSP00000514792.1:p.Thr458Ser
ENST00000700094.1:c.1405C>G (MASP2)	ENSP00000514793.1:n.1405C>G
ENST00000700095.1:c.1298-701C>G (MASP2)	ENSP00000514794.1:n.1298-701C>G
ENST00000700096.1:c.1101-701C>G (MASP2)	ENSP00000514795.1:n.1101-701C>G
ENST00000700097.1:c.1425C>G (MASP2)	ENSP00000514796.1:n.1425C>G
ENST00000400897.8:c.1397C>G (MASP2) MANE Select	ENSP00000383690.3:p.Thr466Ser
ENST00000400897.7:c.1397C>G (MASP2)	ENSP00000383690.3:p.Thr466Ser
ENST00000611136.4:c.448+2341G>C
ENST00000612542.1:c.206+2341G>C
ENST00000614757.4:c.*452+2341G>C	ENSP00000481867.1:n.*452+2341G>C
ENST00000620028.1:n.416+2341G>C
ENST00000622108.1:c.232-2138G>C	ENSP00000480398.1:n.232-2138G>C
NM_006610.3:c.1397C>G (MASP2)	NP_006601.2:p.Thr466Ser
XM_017000863.2:c.*3011+1884G>C (TARDBP)	XP_016856352.1:n.*3011+1884G>C
XM_017000864.2:c.*1895+1884G>C (TARDBP)	XP_016856353.1:n.*1895+1884G>C
XM_017000865.2:c.*1781-2138G>C (TARDBP)	XP_016856354.1:n.*1781-2138G>C
NM_006610.4:c.1397C>G (MASP2) MANE Select	NP_006601.2:p.Thr466Ser