Canonical Allele Identifier: CA1153512386
Gene: MASP2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11046915G= , CM000663.2:g.11046915G= GRCh38
NC_000001.10:g.11106972G= , CM000663.1:g.11106972G= GRCh37
NC_000001.9:g.11029559G= NCBI36
NG_007289.1:g.5314C=
NG_007289.2:g.5314C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000699958.1:c.210C= ENSP00000514717.1:p.His70=
ENST00000700088.1:c.210C= ENSP00000514787.1:p.His70=
ENST00000700089.1:c.210C= ENSP00000514788.1:p.His70=
ENST00000700090.1:c.210C= ENSP00000514789.1:p.His70=
ENST00000700091.1:c.210C= ENSP00000514790.1:p.His70=
ENST00000700092.1:c.210C= ENSP00000514791.1:p.His70=
ENST00000700093.1:c.210C= ENSP00000514792.1:p.His70=
ENST00000700094.1:c.210C= ENSP00000514793.1:p.His70=
ENST00000700095.1:c.210C= ENSP00000514794.1:p.His70=
ENST00000700096.1:c.210C= ENSP00000514795.1:p.His70=
ENST00000700097.1:c.210C= ENSP00000514796.1:p.His70=
ENST00000400897.8:c.210C= MANE Select ENSP00000383690.3:p.His70=
ENST00000400897.7:c.210C= ENSP00000383690.3:p.His70=
ENST00000400898.3:c.210C= ENSP00000383691.3:p.His70=
ENST00000480221.1:n.230C=
NM_006610.3:c.210C= NP_006601.2:p.His70=
NM_139208.2:c.210C= NP_631947.1:p.His70=
XM_017000097.1:c.210C= XP_016855586.1:p.His70=
XR_001736931.1:n.242C=
XR_001736932.1:n.242C=
XR_002958895.1:n.242C=
NM_006610.4:c.210C= MANE Select NP_006601.2:p.His70=
NM_139208.3:c.210C= NP_631947.1:p.His70=