Canonical Allele Identifier: CA587223

Gene: MASP2

Linked Data

• ClinVar Variation Id: 291809
• ClinVar RCV Id: RCV000315205 ; RCV003422212
• dbSNP Id: rs72647262
• ExAC: 1:11106935 G / A
• gnomAD v2: 1-11106935-G-A
• gnomAD v3: 1-11046878-G-A
• gnomAD v4: 1-11046878-G-A
• MyVariant Identifiers: chr1:g.11106935G>A (hg19) ; chr1:g.11046878G>A (hg38)

Genomic Alleles

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

Transcript Alleles

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