Canonical Allele Identifier: CA586735

Gene: MASP2 TARDBP

Linked Data

• ClinVar Variation Id: 291783
• ClinVar RCV Id: RCV000375543 ; RCV000964365
• dbSNP Id: rs61735593
• ExAC: 1:11090287 C / T
• gnomAD v2: 1-11090287-C-T
• gnomAD v3: 1-11030230-C-T
• gnomAD v4: 1-11030230-C-T
• MyVariant Identifiers: chr1:g.11090287C>T (hg19) ; chr1:g.11030230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030230C>T , CM000663.2:g.11030230C>T	GRCh38
NC_000001.10:g.11090287C>T , CM000663.1:g.11090287C>T	GRCh37
NC_000001.9:g.11012874C>T	NCBI36
NG_007289.1:g.21999G>A
NG_007289.2:g.21999G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.1138G>A (MASP2)	ENSP00000514717.1:p.Asp380Asn
ENST00000700088.1:c.1243G>A (MASP2)	ENSP00000514787.1:p.Asp415Asn
ENST00000700089.1:c.1240G>A (MASP2)	ENSP00000514788.1:n.1240G>A
ENST00000700090.1:c.1122G>A (MASP2)	ENSP00000514789.1:n.1122G>A
ENST00000700091.1:c.1045G>A (MASP2)	ENSP00000514790.1:p.Asp349Asn
ENST00000700092.1:c.1222G>A (MASP2)	ENSP00000514791.1:p.Asp408Asn
ENST00000700093.1:c.1219G>A (MASP2)	ENSP00000514792.1:p.Asp407Asn
ENST00000700094.1:c.1251G>A (MASP2)	ENSP00000514793.1:n.1251G>A
ENST00000700095.1:c.1243G>A (MASP2)	ENSP00000514794.1:p.Asp415Asn
ENST00000700096.1:c.1046G>A (MASP2)	ENSP00000514795.1:n.1046G>A
ENST00000700097.1:c.1243G>A (MASP2)	ENSP00000514796.1:p.Asp415Asn
ENST00000400897.8:c.1243G>A (MASP2) MANE Select	ENSP00000383690.3:p.Asp415Asn
ENST00000607145.1:n.572C>T
ENST00000612387.1:n.353C>T
ENST00000400897.7:c.1243G>A (MASP2)	ENSP00000383690.3:p.Asp415Asn
ENST00000611136.4:c.500C>T
ENST00000612542.1:c.258C>T
ENST00000614757.4:c.*504C>T	ENSP00000481867.1:n.*504C>T
ENST00000620028.1:n.468C>T
ENST00000622108.1:c.378C>T	ENSP00000480398.1:n.378C>T
NM_006610.3:c.1243G>A (MASP2)	NP_006601.2:p.Asp415Asn
XM_017000863.2:c.*3555C>T (TARDBP)	XP_016856352.1:n.*3555C>T
XM_017000864.2:c.*2439C>T (TARDBP)	XP_016856353.1:n.*2439C>T
XM_017000865.2:c.*2324C>T (TARDBP)	XP_016856354.1:n.*2324C>T
XR_001736931.1:n.1196G>A (MASP2)
XR_002958895.1:n.1154G>A (MASP2)
NM_006610.4:c.1243G>A (MASP2) MANE Select	NP_006601.2:p.Asp415Asn