Canonical Allele Identifier: CA1153474203

Gene: MASP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030761C= , CM000663.2:g.11030761C=	GRCh38
NC_000001.10:g.11090818C= , CM000663.1:g.11090818C=	GRCh37
NC_000001.9:g.11013405C=	NCBI36
NG_007289.1:g.21468G=
NG_007289.2:g.21468G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.1104G=	ENSP00000514717.1:p.Met368=
ENST00000700088.1:c.1209G=	ENSP00000514787.1:p.Met403=
ENST00000700089.1:c.1206G=	ENSP00000514788.1:n.1206G=
ENST00000700090.1:c.1088G=	ENSP00000514789.1:n.1088G=
ENST00000700091.1:c.1011G=	ENSP00000514790.1:p.Met337=
ENST00000700092.1:c.1188G=	ENSP00000514791.1:p.Met396=
ENST00000700093.1:c.1185G=	ENSP00000514792.1:p.Met395=
ENST00000700094.1:c.1217G=	ENSP00000514793.1:n.1217G=
ENST00000700095.1:c.1209G=	ENSP00000514794.1:p.Met403=
ENST00000700096.1:c.1012G=	ENSP00000514795.1:n.1012G=
ENST00000700097.1:c.1209G=	ENSP00000514796.1:p.Met403=
ENST00000700098.1:n.731G=
ENST00000400897.8:c.1209G= MANE Select	ENSP00000383690.3:p.Met403=
ENST00000400897.7:c.1209G=	ENSP00000383690.3:p.Met403=
NM_006610.3:c.1209G=	NP_006601.2:p.Met403=
XR_001736931.1:n.1162G=
XR_002958895.1:n.1120G=
NM_006610.4:c.1209G= MANE Select	NP_006601.2:p.Met403=