Canonical Allele Identifier: CA338377801

Gene: MASP2

Linked Data

• gnomAD v4: 1-11030768-T-G
• MyVariant Identifiers: chr1:g.11090825T>G (hg19) ; chr1:g.11030768T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030768T>G , CM000663.2:g.11030768T>G	GRCh38
NC_000001.10:g.11090825T>G , CM000663.1:g.11090825T>G	GRCh37
NC_000001.9:g.11013412T>G	NCBI36
NG_007289.1:g.21461A>C
NG_007289.2:g.21461A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000699958.1:c.1097A>C	ENSP00000514717.1:p.Tyr366Ser
ENST00000700088.1:c.1202A>C	ENSP00000514787.1:p.Tyr401Ser
ENST00000700089.1:c.1199A>C	ENSP00000514788.1:n.1199A>C
ENST00000700090.1:c.1081A>C	ENSP00000514789.1:n.1081A>C
ENST00000700091.1:c.1004A>C	ENSP00000514790.1:p.Tyr335Ser
ENST00000700092.1:c.1181A>C	ENSP00000514791.1:p.Tyr394Ser
ENST00000700093.1:c.1178A>C	ENSP00000514792.1:p.Tyr393Ser
ENST00000700094.1:c.1210A>C	ENSP00000514793.1:n.1210A>C
ENST00000700095.1:c.1202A>C	ENSP00000514794.1:p.Tyr401Ser
ENST00000700096.1:c.1005A>C	ENSP00000514795.1:n.1005A>C
ENST00000700097.1:c.1202A>C	ENSP00000514796.1:p.Tyr401Ser
ENST00000700098.1:n.724A>C
ENST00000400897.8:c.1202A>C MANE Select	ENSP00000383690.3:p.Tyr401Ser
ENST00000400897.7:c.1202A>C	ENSP00000383690.3:p.Tyr401Ser
NM_006610.3:c.1202A>C	NP_006601.2:p.Tyr401Ser
XR_001736931.1:n.1155A>C
XR_002958895.1:n.1113A>C
NM_006610.4:c.1202A>C MANE Select	NP_006601.2:p.Tyr401Ser