Canonical Allele Identifier: CA1153474420

Gene: MASP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030845_11030861delinsGCCACTGGGTAGATCAT , CM000663.2:g.11030845_11030861delinsGCCACTGGGTAGATCAT	GRCh38
NC_000001.10:g.11090902_11090918delinsGCCACTGGGTAGATCAT , CM000663.1:g.11090902_11090918delinsGCCACTGGGTAGATCAT	GRCh37
NC_000001.9:g.11013489_11013505delinsGCCACTGGGTAGATCAT	NCBI36
NG_007289.1:g.21368_21384delinsATGATCTACCCAGTGGC
NG_007289.2:g.21368_21384delinsATGATCTACCCAGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.1004_1020delinsATGATCTACCCAGTGGC	ENSP00000514717.1:p.Asp335=
ENST00000700088.1:c.1109_1125delinsATGATCTACCCAGTGGC	ENSP00000514787.1:p.Asp370=
ENST00000700089.1:c.1106_1122delinsATGATCTACCCAGTGGC	ENSP00000514788.1:n.1106_1122delinsATGATCTACCCAGTGGC
ENST00000700090.1:c.988_1004delinsATGATCTACCCAGTGGC	ENSP00000514789.1:n.988_1004delinsATGATCTACCCAGTGGC
ENST00000700091.1:c.911_927delinsATGATCTACCCAGTGGC	ENSP00000514790.1:p.Asp304=
ENST00000700092.1:c.1101-13_1104delinsATGATCTACCCAGTGGC
ENST00000700093.1:c.1085_1101delinsATGATCTACCCAGTGGC	ENSP00000514792.1:p.Asp362=
ENST00000700094.1:c.1117_1133delinsATGATCTACCCAGTGGC	ENSP00000514793.1:n.1117_1133delinsATGATCTACCCAGTGGC
ENST00000700095.1:c.1109_1125delinsATGATCTACCCAGTGGC	ENSP00000514794.1:p.Asp370=
ENST00000700096.1:c.912_928delinsATGATCTACCCAGTGGC	ENSP00000514795.1:n.912_928delinsATGATCTACCCAGTGGC
ENST00000700097.1:c.1109_1125delinsATGATCTACCCAGTGGC	ENSP00000514796.1:p.Asp370=
ENST00000700098.1:n.631_647delinsATGATCTACCCAGTGGC
ENST00000400897.8:c.1109_1125delinsATGATCTACCCAGTGGC MANE Select	ENSP00000383690.3:p.Asp370=
ENST00000400897.7:c.1109_1125delinsATGATCTACCCAGTGGC	ENSP00000383690.3:p.Asp370=
NM_006610.3:c.1109_1125delinsATGATCTACCCAGTGGC	NP_006601.2:p.Asp370=
XR_001736931.1:n.1062_1078delinsATGATCTACCCAGTGGC
XR_002958895.1:n.1020_1036delinsATGATCTACCCAGTGGC
NM_006610.4:c.1109_1125delinsATGATCTACCCAGTGGC MANE Select	NP_006601.2:p.Asp370=