Canonical Allele Identifier: CA338364167

Gene: MASP2 TARDBP

Linked Data

• MyVariant Identifiers: chr1:g.11082214A>C (hg19) ; chr1:g.11022157A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022157A>C , CM000663.2:g.11022157A>C	GRCh38
NC_000001.10:g.11082214A>C , CM000663.1:g.11082214A>C	GRCh37
NC_000001.9:g.11004801A>C	NCBI36
NG_008734.1:g.14536A>C , LRG_659:g.14536A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1433T>G (MASP2)	ENSP00000514787.1:n.1433T>G
ENST00000240185.8:c.748A>C (TARDBP) MANE Select	ENSP00000240185.4:p.Ile250Leu
ENST00000639083.1:c.748A>C (TARDBP)	ENSP00000491203.1:p.Ile250Leu
ENST00000639599.1:c.748A>C (TARDBP)	ENSP00000492196.1:p.Ile250Leu
ENST00000649624.1:c.748A>C (TARDBP)	ENSP00000497327.1:p.Ile250Leu
ENST00000240185.7:c.748A>C (TARDBP)	ENSP00000240185.3:p.Ile250Leu
ENST00000315091.7:c.748A>C (TARDBP)	ENSP00000313129.3:p.Ile250Leu
ENST00000439080.6:c.*329A>C (TARDBP)	ENSP00000404666.3:n.*329A>C
ENST00000472476.5:c.*637A>C (TARDBP)	ENSP00000465080.1:n.*637A>C
ENST00000473869.5:c.748A>C (TARDBP)	ENSP00000432132.1:p.Ile250Leu
ENST00000477447.6:c.47A>C (TARDBP)
ENST00000610369.4:c.226A>C (TARDBP)	ENSP00000482559.1:p.Ile76Leu
ENST00000611136.4:c.128A>C
ENST00000611963.4:c.388A>C (TARDBP)	ENSP00000481330.1:p.Ile130Leu
ENST00000612542.1:c.14A>C
ENST00000614494.1:c.201A>C (TARDBP)
ENST00000614757.4:c.748A>C	ENSP00000481867.1:p.Ile250Leu
ENST00000616545.4:c.748A>C (TARDBP)	ENSP00000484722.1:p.Ile250Leu
ENST00000617172.4:c.489A>C (TARDBP)
ENST00000619555.4:c.299A>C (TARDBP)
ENST00000620632.4:c.299A>C (TARDBP)
ENST00000621715.4:c.577A>C (TARDBP)	ENSP00000480690.1:p.Ile193Leu
ENST00000621790.4:c.748A>C (TARDBP)	ENSP00000482191.1:p.Ile250Leu
ENST00000622057.4:c.495A>C (TARDBP)
ENST00000629725.2:c.748A>C (TARDBP)	ENSP00000486989.1:p.Ile250Leu
NM_007375.3:c.748A>C , LRG_659t1:c.748A>C (TARDBP)	NP_031401.1:p.Ile250Leu
XR_946596.1:n.870A>C (TARDBP)
XR_946597.1:n.870A>C (TARDBP)
XM_017000863.2:c.748A>C (TARDBP)	XP_016856352.1:p.Ile250Leu
XM_017000864.2:c.748A>C (TARDBP)	XP_016856353.1:p.Ile250Leu
XM_017000865.2:c.748A>C (TARDBP)	XP_016856354.1:p.Ile250Leu
XM_017000866.2:c.748A>C (TARDBP)	XP_016856355.1:p.Ile250Leu
XM_017000867.2:c.748A>C (TARDBP)	XP_016856356.1:p.Ile250Leu
XM_017000868.2:c.748A>C (TARDBP)	XP_016856357.1:p.Ile250Leu
NM_007375.4:c.748A>C (TARDBP) MANE Select	NP_031401.1:p.Ile250Leu