Canonical Allele Identifier: CA587171

Gene: MASP2

Linked Data

• dbSNP Id: rs565317971
• ExAC: 1:11106667 C / T
• gnomAD v2: 1-11106667-C-T
• gnomAD v4: 1-11046610-C-T
• COSMIC: COSM83871
• MyVariant Identifiers: chr1:g.11106667C>T (hg19) ; chr1:g.11046610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11046610C>T , CM000663.2:g.11046610C>T	GRCh38
NC_000001.10:g.11106667C>T , CM000663.1:g.11106667C>T	GRCh37
NC_000001.9:g.11029254C>T	NCBI36
NG_007289.1:g.5619G>A
NG_007289.2:g.5619G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000699958.1:c.358G>A	ENSP00000514717.1:p.Asp120Asn
ENST00000700088.1:c.358G>A	ENSP00000514787.1:p.Asp120Asn
ENST00000700089.1:c.358G>A	ENSP00000514788.1:p.Asp120Asn
ENST00000700090.1:c.358G>A	ENSP00000514789.1:p.Asp120Asn
ENST00000700091.1:c.358G>A	ENSP00000514790.1:p.Asp120Asn
ENST00000700092.1:c.358G>A	ENSP00000514791.1:p.Asp120Asn
ENST00000700093.1:c.358G>A	ENSP00000514792.1:p.Asp120Asn
ENST00000700094.1:c.358G>A	ENSP00000514793.1:p.Asp120Asn
ENST00000700095.1:c.358G>A	ENSP00000514794.1:p.Asp120Asn
ENST00000700096.1:c.358G>A	ENSP00000514795.1:p.Asp120Asn
ENST00000700097.1:c.358G>A	ENSP00000514796.1:p.Asp120Asn
ENST00000400897.8:c.358G>A MANE Select	ENSP00000383690.3:p.Asp120Asn
ENST00000400897.7:c.358G>A	ENSP00000383690.3:p.Asp120Asn
ENST00000400898.3:c.358G>A	ENSP00000383691.3:p.Asp120Asn
ENST00000480221.1:n.378G>A
NM_006610.3:c.358G>A	NP_006601.2:p.Asp120Asn
NM_139208.2:c.358G>A	NP_631947.1:p.Asp120Asn
XM_017000097.1:c.358G>A	XP_016855586.1:p.Asp120Asn
XR_001736931.1:n.390G>A
XR_001736932.1:n.390G>A
XR_002958895.1:n.390G>A
NM_006610.4:c.358G>A MANE Select	NP_006601.2:p.Asp120Asn
NM_139208.3:c.358G>A	NP_631947.1:p.Asp120Asn