Canonical Allele Identifier: CA1153474424

Gene: MASP2

Linked Data

• dbSNP Id: rs1643831730

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030847_11030862del , CM000663.2:g.11030847_11030862del	GRCh38
NC_000001.10:g.11090904_11090919del , CM000663.1:g.11090904_11090919del	GRCh37
NC_000001.9:g.11013491_11013506del	NCBI36
NG_007289.1:g.21368_21383del
NG_007289.2:g.21368_21383del

Transcript Alleles

HGVS	Amino-acid change
ENST00000699958.1:c.1004_1019del	ENSP00000514717.1:p.Asp335AlafsTer11
ENST00000700088.1:c.1109_1124del	ENSP00000514787.1:p.Asp370AlafsTer11
ENST00000700089.1:c.1106_1121del	ENSP00000514788.1:n.1106_1121del
ENST00000700090.1:c.988_1003del	ENSP00000514789.1:n.988_1003del
ENST00000700091.1:c.911_926del	ENSP00000514790.1:p.Asp304AlafsTer11
ENST00000700092.1:c.1101-13_1103del
ENST00000700093.1:c.1085_1100del	ENSP00000514792.1:p.Asp362AlafsTer11
ENST00000700094.1:c.1117_1132del	ENSP00000514793.1:n.1117_1132del
ENST00000700095.1:c.1109_1124del	ENSP00000514794.1:p.Asp370AlafsTer11
ENST00000700096.1:c.912_927del	ENSP00000514795.1:n.912_927del
ENST00000700097.1:c.1109_1124del	ENSP00000514796.1:p.Asp370AlafsTer11
ENST00000700098.1:n.631_646del
ENST00000400897.8:c.1109_1124del MANE Select	ENSP00000383690.3:p.Asp370AlafsTer11
ENST00000400897.7:c.1109_1124del	ENSP00000383690.3:p.Asp370AlafsTer11
NM_006610.3:c.1109_1124del	NP_006601.2:p.Asp370AlafsTer11
XR_001736931.1:n.1062_1077del
XR_002958895.1:n.1020_1035del
NM_006610.4:c.1109_1124del MANE Select	NP_006601.2:p.Asp370AlafsTer11