Canonical Allele Identifier: CA586784

Gene: MASP2

Linked Data

• dbSNP Id: rs781398212
• ExAC: 1:11090900 CGGCCACTGGGTAGATCATCAGGAG / C
• gnomAD v2: 1-11090900-CGGCCACTGGGTAGATCATCAGGAG-C
• gnomAD v3: 1-11030843-CGGCCACTGGGTAGATCATCAGGAG-C
• gnomAD v4: 1-11030843-CGGCCACTGGGTAGATCATCAGGAG-C
• MyVariant Identifiers: chr1:g.11090901_11090924del (hg19) ; chr1:g.11030844_11030867del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030850_11030873del , CM000663.2:g.11030850_11030873del	GRCh38
NC_000001.10:g.11090907_11090930del , CM000663.1:g.11090907_11090930del	GRCh37
NC_000001.9:g.11013494_11013517del	NCBI36
NG_007289.1:g.21362_21385del
NG_007289.2:g.21362_21385del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.998_1021del	ENSP00000514717.1:p.Pro333_Gly340del
ENST00000700088.1:c.1103_1126del	ENSP00000514787.1:p.Pro368_Gly375del
ENST00000700089.1:c.1100_1123del	ENSP00000514788.1:n.1100_1123del
ENST00000700090.1:c.982_1005del	ENSP00000514789.1:n.982_1005del
ENST00000700091.1:c.905_928del	ENSP00000514790.1:p.Pro302_Gly309del
ENST00000700092.1:c.1101-19_1105del
ENST00000700093.1:c.1079_1102del	ENSP00000514792.1:p.Pro360_Gly367del
ENST00000700094.1:c.1111_1134del	ENSP00000514793.1:n.1111_1134del
ENST00000700095.1:c.1103_1126del	ENSP00000514794.1:p.Pro368_Gly375del
ENST00000700096.1:c.906_929del	ENSP00000514795.1:n.906_929del
ENST00000700097.1:c.1103_1126del	ENSP00000514796.1:p.Pro368_Gly375del
ENST00000700098.1:n.625_648del
ENST00000400897.8:c.1103_1126del MANE Select	ENSP00000383690.3:p.Pro368_Gly375del
ENST00000400897.7:c.1103_1126del	ENSP00000383690.3:p.Pro368_Gly375del
NM_006610.3:c.1103_1126del	NP_006601.2:p.Pro368_Gly375del
XR_001736931.1:n.1056_1079del
XR_002958895.1:n.1014_1037del
NM_006610.4:c.1103_1126del MANE Select	NP_006601.2:p.Pro368_Gly375del