Canonical Allele Identifier: CA17876354

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 21468
• ClinVar RCV Id: RCV000020657 ; RCV000993301 ; RCV001851975
• dbSNP Id: rs80356734
• gnomAD v4: 1-11022464-A-G
• MyVariant Identifiers: chr1:g.11082521A>G (hg19) ; chr1:g.11022464A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022464A>G , CM000663.2:g.11022464A>G	GRCh38
NC_000001.10:g.11082521A>G , CM000663.1:g.11082521A>G	GRCh37
NC_000001.9:g.11005108A>G	NCBI36
NG_008734.1:g.14843A>G , LRG_659:g.14843A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1397-271T>C (MASP2)	ENSP00000514787.1:n.1397-271T>C
ENST00000240185.8:c.1055A>G (TARDBP) MANE Select	ENSP00000240185.4:p.Asn352Ser
ENST00000639083.1:c.1055A>G (TARDBP)	ENSP00000491203.1:p.Asn352Ser
ENST00000639599.1:c.832+223A>G (TARDBP)	ENSP00000492196.1:n.832+223A>G
ENST00000649624.1:c.768+287A>G (TARDBP)	ENSP00000497327.1:n.768+287A>G
ENST00000240185.7:c.1055A>G (TARDBP)	ENSP00000240185.3:p.Asn352Ser
ENST00000315091.7:c.832+223A>G (TARDBP)	ENSP00000313129.3:n.832+223A>G
ENST00000439080.6:c.*636A>G (TARDBP)	ENSP00000404666.3:n.*636A>G
ENST00000473869.5:c.841+214A>G (TARDBP)	ENSP00000432132.1:n.841+214A>G
ENST00000477447.6:c.140+214A>G (TARDBP)
ENST00000610369.4:c.319+214A>G (TARDBP)	ENSP00000482559.1:n.319+214A>G
ENST00000611136.4:c.212+223A>G
ENST00000611963.4:c.472+223A>G (TARDBP)	ENSP00000481330.1:n.472+223A>G
ENST00000612542.1:c.107+214A>G
ENST00000614494.1:c.221+287A>G (TARDBP)
ENST00000614757.4:c.841+214A>G	ENSP00000481867.1:n.841+214A>G
ENST00000616545.4:c.841+214A>G (TARDBP)	ENSP00000484722.1:n.841+214A>G
ENST00000617172.4:c.582+214A>G (TARDBP)
ENST00000619555.4:c.392+214A>G (TARDBP)
ENST00000620505.1:c.157A>G (TARDBP)
ENST00000620632.4:c.392+214A>G (TARDBP)
ENST00000621790.4:c.859+196A>G (TARDBP)	ENSP00000482191.1:n.859+196A>G
ENST00000622057.4:c.579+223A>G (TARDBP)
ENST00000629725.2:c.841+214A>G (TARDBP)	ENSP00000486989.1:n.841+214A>G
NM_007375.3:c.1055A>G , LRG_659t1:c.1055A>G (TARDBP)	NP_031401.1:p.Asn352Ser
XR_946596.1:n.1177A>G (TARDBP)
XR_946597.1:n.1177A>G (TARDBP)
XM_017000863.2:c.1055A>G (TARDBP)	XP_016856352.1:p.Asn352Ser
XM_017000864.2:c.1055A>G (TARDBP)	XP_016856353.1:p.Asn352Ser
XM_017000865.2:c.1055A>G (TARDBP)	XP_016856354.1:p.Asn352Ser
XM_017000866.2:c.1055A>G (TARDBP)	XP_016856355.1:p.Asn352Ser
XM_017000867.2:c.1055A>G (TARDBP)	XP_016856356.1:p.Asn352Ser
XM_017000868.2:c.1055A>G (TARDBP)	XP_016856357.1:p.Asn352Ser
NM_007375.4:c.1055A>G (TARDBP) MANE Select	NP_031401.1:p.Asn352Ser