Canonical Allele Identifier: CA586918

Gene: MASP2

Linked Data

• ClinVar Variation Id: 291792
• ClinVar RCV Id: RCV000399128
• dbSNP Id: rs149800848
• ExAC: 1:11102993 G / C
• gnomAD v2: 1-11102993-G-C
• gnomAD v3: 1-11042936-G-C
• gnomAD v4: 1-11042936-G-C
• MyVariant Identifiers: chr1:g.11102993G>C (hg19) ; chr1:g.11042936G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11042936G>C , CM000663.2:g.11042936G>C	GRCh38
NC_000001.10:g.11102993G>C , CM000663.1:g.11102993G>C	GRCh37
NC_000001.9:g.11025580G>C	NCBI36
NG_007289.1:g.9293C>G
NG_007289.2:g.9293C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699958.1:c.742-14C>G	ENSP00000514717.1:n.742-14C>G
ENST00000700088.1:c.828C>G	ENSP00000514787.1:p.Ile276Met
ENST00000700089.1:c.828C>G	ENSP00000514788.1:p.Ile276Met
ENST00000700090.1:c.631C>G	ENSP00000514789.1:n.631C>G
ENST00000700091.1:c.828C>G	ENSP00000514790.1:p.Ile276Met
ENST00000700092.1:c.828C>G	ENSP00000514791.1:p.Ile276Met
ENST00000700093.1:c.742-14C>G	ENSP00000514792.1:n.742-14C>G
ENST00000700094.1:c.828C>G	ENSP00000514793.1:p.Ile276Met
ENST00000700095.1:c.828C>G	ENSP00000514794.1:p.Ile276Met
ENST00000700096.1:c.631C>G	ENSP00000514795.1:n.631C>G
ENST00000700097.1:c.828C>G	ENSP00000514796.1:p.Ile276Met
ENST00000700098.1:n.288-14C>G
ENST00000400897.8:c.828C>G MANE Select	ENSP00000383690.3:p.Ile276Met
ENST00000400897.7:c.828C>G	ENSP00000383690.3:p.Ile276Met
ENST00000478645.1:n.263C>G
NM_006610.3:c.828C>G	NP_006601.2:p.Ile276Met
XM_017000097.1:c.828C>G	XP_016855586.1:p.Ile276Met
XR_001736931.1:n.860C>G
XR_001736932.1:n.663C>G
XR_002958895.1:n.663C>G
NM_006610.4:c.828C>G MANE Select	NP_006601.2:p.Ile276Met