Canonical Allele Identifier: CA1148282783

Gene: MASP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030859_11030862delinsCATC , CM000663.2:g.11030859_11030862delinsCATC	GRCh38
NC_000001.10:g.11090916_11090919delinsCATC , CM000663.1:g.11090916_11090919delinsCATC	GRCh37
NC_000001.9:g.11013503_11013506delinsCATC	NCBI36
NG_007289.1:g.21367_21370delinsGATG
NG_007289.2:g.21367_21370delinsGATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.1003_1006delinsGATG	ENSP00000514717.1:p.Asp335=
ENST00000700088.1:c.1108_1111delinsGATG	ENSP00000514787.1:p.Asp370=
ENST00000700089.1:c.1105_1108delinsGATG	ENSP00000514788.1:n.1105_1108delinsGATG
ENST00000700090.1:c.987_990delinsGATG	ENSP00000514789.1:n.987_990delinsGATG
ENST00000700091.1:c.910_913delinsGATG	ENSP00000514790.1:p.Asp304=
ENST00000700092.1:c.1101-14_1101-11delinsGATG	ENSP00000514791.1:n.1101-14_1101-11delinsGATG
ENST00000700093.1:c.1084_1087delinsGATG	ENSP00000514792.1:p.Asp362=
ENST00000700094.1:c.1116_1119delinsGATG	ENSP00000514793.1:n.1116_1119delinsGATG
ENST00000700095.1:c.1108_1111delinsGATG	ENSP00000514794.1:p.Asp370=
ENST00000700096.1:c.911_914delinsGATG	ENSP00000514795.1:n.911_914delinsGATG
ENST00000700097.1:c.1108_1111delinsGATG	ENSP00000514796.1:p.Asp370=
ENST00000700098.1:n.630_633delinsGATG
ENST00000400897.8:c.1108_1111delinsGATG MANE Select	ENSP00000383690.3:p.Asp370=
ENST00000400897.7:c.1108_1111delinsGATG	ENSP00000383690.3:p.Asp370=
NM_006610.3:c.1108_1111delinsGATG	NP_006601.2:p.Asp370=
XR_001736931.1:n.1061_1064delinsGATG
XR_002958895.1:n.1019_1022delinsGATG
NM_006610.4:c.1108_1111delinsGATG MANE Select	NP_006601.2:p.Asp370=