Canonical Allele Identifier: CA415915171

Gene: MASP2

Linked Data

• dbSNP Id: rs1433954096
• gnomAD v2: 1-11090821-T-C
• gnomAD v4: 1-11030764-T-C
• MyVariant Identifiers: chr1:g.11090821T>C (hg19) ; chr1:g.11030764T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030764T>C , CM000663.2:g.11030764T>C	GRCh38
NC_000001.10:g.11090821T>C , CM000663.1:g.11090821T>C	GRCh37
NC_000001.9:g.11013408T>C	NCBI36
NG_007289.1:g.21465A>G
NG_007289.2:g.21465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.1101A>G	ENSP00000514717.1:p.Thr367=
ENST00000700088.1:c.1206A>G	ENSP00000514787.1:p.Thr402=
ENST00000700089.1:c.1203A>G	ENSP00000514788.1:n.1203A>G
ENST00000700090.1:c.1085A>G	ENSP00000514789.1:n.1085A>G
ENST00000700091.1:c.1008A>G	ENSP00000514790.1:p.Thr336=
ENST00000700092.1:c.1185A>G	ENSP00000514791.1:p.Thr395=
ENST00000700093.1:c.1182A>G	ENSP00000514792.1:p.Thr394=
ENST00000700094.1:c.1214A>G	ENSP00000514793.1:n.1214A>G
ENST00000700095.1:c.1206A>G	ENSP00000514794.1:p.Thr402=
ENST00000700096.1:c.1009A>G	ENSP00000514795.1:n.1009A>G
ENST00000700097.1:c.1206A>G	ENSP00000514796.1:p.Thr402=
ENST00000700098.1:n.728A>G
ENST00000400897.8:c.1206A>G MANE Select	ENSP00000383690.3:p.Thr402=
ENST00000400897.7:c.1206A>G	ENSP00000383690.3:p.Thr402=
NM_006610.3:c.1206A>G	NP_006601.2:p.Thr402=
XR_001736931.1:n.1159A>G
XR_002958895.1:n.1117A>G
NM_006610.4:c.1206A>G MANE Select	NP_006601.2:p.Thr402=