Canonical Allele Identifier: CA17904345

Gene: MASP2

Linked Data

• dbSNP Id: rs72647262
• gnomAD v2: 1-11106935-G-C
• gnomAD v4: 1-11046878-G-C
• MyVariant Identifiers: chr1:g.11106935G>C (hg19) ; chr1:g.11046878G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11046878G>C , CM000663.2:g.11046878G>C	GRCh38
NC_000001.10:g.11106935G>C , CM000663.1:g.11106935G>C	GRCh37
NC_000001.9:g.11029522G>C	NCBI36
NG_007289.1:g.5351C>G
NG_007289.2:g.5351C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.234+13C>G	ENSP00000514717.1:n.234+13C>G
ENST00000700088.1:c.234+13C>G	ENSP00000514787.1:n.234+13C>G
ENST00000700089.1:c.234+13C>G	ENSP00000514788.1:n.234+13C>G
ENST00000700090.1:c.234+13C>G	ENSP00000514789.1:n.234+13C>G
ENST00000700091.1:c.234+13C>G	ENSP00000514790.1:n.234+13C>G
ENST00000700092.1:c.234+13C>G	ENSP00000514791.1:n.234+13C>G
ENST00000700093.1:c.234+13C>G	ENSP00000514792.1:n.234+13C>G
ENST00000700094.1:c.234+13C>G	ENSP00000514793.1:n.234+13C>G
ENST00000700095.1:c.234+13C>G	ENSP00000514794.1:n.234+13C>G
ENST00000700096.1:c.234+13C>G	ENSP00000514795.1:n.234+13C>G
ENST00000700097.1:c.234+13C>G	ENSP00000514796.1:n.234+13C>G
ENST00000400897.8:c.234+13C>G MANE Select	ENSP00000383690.3:n.234+13C>G
ENST00000400897.7:c.234+13C>G	ENSP00000383690.3:n.234+13C>G
ENST00000400898.3:c.234+13C>G	ENSP00000383691.3:n.234+13C>G
ENST00000480221.1:n.254+13C>G
NM_006610.3:c.234+13C>G	NP_006601.2:n.234+13C>G
NM_139208.2:c.234+13C>G	NP_631947.1:n.234+13C>G
XM_017000097.1:c.234+13C>G	XP_016855586.1:n.234+13C>G
XR_001736931.1:n.266+13C>G
XR_001736932.1:n.266+13C>G
XR_002958895.1:n.266+13C>G
NM_006610.4:c.234+13C>G MANE Select	NP_006601.2:n.234+13C>G
NM_139208.3:c.234+13C>G	NP_631947.1:n.234+13C>G