Canonical Allele Identifier: CA338378421

Gene: MASP2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030859C>G , CM000663.2:g.11030859C>G	GRCh38
NC_000001.10:g.11090916C>G , CM000663.1:g.11090916C>G	GRCh37
NC_000001.9:g.11013503C>G	NCBI36
NG_007289.1:g.21370G>C
NG_007289.2:g.21370G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_006610.4:c.1111G>C MANE Select	NP_006601.2:p.Asp371His
ENST00000400897.8:c.1111G>C MANE Select	ENSP00000383690.3:p.Asp371His
NM_006610.3:c.1111G>C	NP_006601.2:p.Asp371His
ENST00000400897.7:c.1111G>C	ENSP00000383690.3:p.Asp371His
ENST00000699958.1:c.1006G>C	ENSP00000514717.1:p.Asp336His
ENST00000700088.1:c.1111G>C	ENSP00000514787.1:p.Asp371His
ENST00000700089.1:c.1108G>C	ENSP00000514788.1:n.1108G>C
ENST00000700090.1:c.990G>C	ENSP00000514789.1:n.990G>C
ENST00000700091.1:c.913G>C	ENSP00000514790.1:p.Asp305His
ENST00000700092.1:c.1101-11G>C	ENSP00000514791.1:n.1101-11G>C
ENST00000700093.1:c.1087G>C	ENSP00000514792.1:p.Asp363His
ENST00000700094.1:c.1119G>C	ENSP00000514793.1:n.1119G>C
ENST00000700095.1:c.1111G>C	ENSP00000514794.1:p.Asp371His
ENST00000700096.1:c.914G>C	ENSP00000514795.1:n.914G>C
ENST00000700097.1:c.1111G>C	ENSP00000514796.1:p.Asp371His
ENST00000700098.1:n.633G>C
XR_001736931.1:n.1064G>C
XR_002958895.1:n.1022G>C