Canonical Allele Identifier: CA416040539

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 2932571
• ClinVar RCV Id: RCV003797737
• dbSNP Id: rs1469816236
• gnomAD v2: 1-11082456-A-G
• gnomAD v3: 1-11022399-A-G
• gnomAD v4: 1-11022399-A-G
• MyVariant Identifiers: chr1:g.11082456A>G (hg19) ; chr1:g.11022399A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022399A>G , CM000663.2:g.11022399A>G	GRCh38
NC_000001.10:g.11082456A>G , CM000663.1:g.11082456A>G	GRCh37
NC_000001.9:g.11005043A>G	NCBI36
NG_008734.1:g.14778A>G , LRG_659:g.14778A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-206T>C (MASP2)	ENSP00000514787.1:n.1397-206T>C
ENST00000240185.8:c.990A>G (TARDBP) MANE Select	ENSP00000240185.4:p.Leu330=
ENST00000639083.1:c.990A>G (TARDBP)	ENSP00000491203.1:p.Leu330=
ENST00000639599.1:c.832+158A>G (TARDBP)	ENSP00000492196.1:n.832+158A>G
ENST00000649624.1:c.768+222A>G (TARDBP)	ENSP00000497327.1:n.768+222A>G
ENST00000240185.7:c.990A>G (TARDBP)	ENSP00000240185.3:p.Leu330=
ENST00000315091.7:c.832+158A>G (TARDBP)	ENSP00000313129.3:n.832+158A>G
ENST00000439080.6:c.*571A>G (TARDBP)	ENSP00000404666.3:n.*571A>G
ENST00000473869.5:c.841+149A>G (TARDBP)	ENSP00000432132.1:n.841+149A>G
ENST00000477447.6:c.140+149A>G (TARDBP)
ENST00000610369.4:c.319+149A>G (TARDBP)	ENSP00000482559.1:n.319+149A>G
ENST00000611136.4:c.212+158A>G
ENST00000611963.4:c.472+158A>G (TARDBP)	ENSP00000481330.1:n.472+158A>G
ENST00000612542.1:c.107+149A>G
ENST00000614494.1:c.221+222A>G (TARDBP)
ENST00000614757.4:c.841+149A>G	ENSP00000481867.1:n.841+149A>G
ENST00000616545.4:c.841+149A>G (TARDBP)	ENSP00000484722.1:n.841+149A>G
ENST00000617172.4:c.582+149A>G (TARDBP)
ENST00000619555.4:c.392+149A>G (TARDBP)
ENST00000620505.1:c.92A>G (TARDBP)
ENST00000620632.4:c.392+149A>G (TARDBP)
ENST00000621790.4:c.859+131A>G (TARDBP)	ENSP00000482191.1:n.859+131A>G
ENST00000622057.4:c.579+158A>G (TARDBP)
ENST00000629725.2:c.841+149A>G (TARDBP)	ENSP00000486989.1:n.841+149A>G
NM_007375.3:c.990A>G , LRG_659t1:c.990A>G (TARDBP)	NP_031401.1:p.Leu330=
XR_946596.1:n.1112A>G (TARDBP)
XR_946597.1:n.1112A>G (TARDBP)
XM_017000863.2:c.990A>G (TARDBP)	XP_016856352.1:p.Leu330=
XM_017000864.2:c.990A>G (TARDBP)	XP_016856353.1:p.Leu330=
XM_017000865.2:c.990A>G (TARDBP)	XP_016856354.1:p.Leu330=
XM_017000866.2:c.990A>G (TARDBP)	XP_016856355.1:p.Leu330=
XM_017000867.2:c.990A>G (TARDBP)	XP_016856356.1:p.Leu330=
XM_017000868.2:c.990A>G (TARDBP)	XP_016856357.1:p.Leu330=
NM_007375.4:c.990A>G (TARDBP) MANE Select	NP_031401.1:p.Leu330=