Canonical Allele Identifier: CA415915767

Gene: MASP2

Linked Data

• MyVariant Identifiers: chr1:g.11090920A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030863A>C , CM000663.2:g.11030863A>C	GRCh38
NC_000001.10:g.11090920A>C , CM000663.1:g.11090920A>C	GRCh37
NC_000001.9:g.11013507A>C	NCBI36
NG_007289.1:g.21366T>G
NG_007289.2:g.21366T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699958.1:c.1002T>G	ENSP00000514717.1:p.Pro334=
ENST00000700088.1:c.1107T>G	ENSP00000514787.1:p.Pro369=
ENST00000700089.1:c.1104T>G	ENSP00000514788.1:n.1104T>G
ENST00000700090.1:c.986T>G	ENSP00000514789.1:n.986T>G
ENST00000700091.1:c.909T>G	ENSP00000514790.1:p.Pro303=
ENST00000700092.1:c.1101-15T>G	ENSP00000514791.1:n.1101-15T>G
ENST00000700093.1:c.1083T>G	ENSP00000514792.1:p.Pro361=
ENST00000700094.1:c.1115T>G	ENSP00000514793.1:n.1115T>G
ENST00000700095.1:c.1107T>G	ENSP00000514794.1:p.Pro369=
ENST00000700096.1:c.910T>G	ENSP00000514795.1:n.910T>G
ENST00000700097.1:c.1107T>G	ENSP00000514796.1:p.Pro369=
ENST00000700098.1:n.629T>G
ENST00000400897.8:c.1107T>G MANE Select	ENSP00000383690.3:p.Pro369=
ENST00000400897.7:c.1107T>G	ENSP00000383690.3:p.Pro369=
NM_006610.3:c.1107T>G	NP_006601.2:p.Pro369=
XR_001736931.1:n.1060T>G
XR_002958895.1:n.1018T>G
NM_006610.4:c.1107T>G MANE Select	NP_006601.2:p.Pro369=