Canonical Allele Identifier: CA415920543

Gene: MASP2

Linked Data

• dbSNP Id: rs1188336285
• gnomAD v2: 1-11106978-G-A
• gnomAD v3: 1-11046921-G-A
• gnomAD v4: 1-11046921-G-A
• MyVariant Identifiers: chr1:g.11106978G>A (hg19) ; chr1:g.11046921G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11046921G>A , CM000663.2:g.11046921G>A	GRCh38
NC_000001.10:g.11106978G>A , CM000663.1:g.11106978G>A	GRCh37
NC_000001.9:g.11029565G>A	NCBI36
NG_007289.1:g.5308C>T
NG_007289.2:g.5308C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.204C>T	ENSP00000514717.1:p.Leu68=
ENST00000700088.1:c.204C>T	ENSP00000514787.1:p.Leu68=
ENST00000700089.1:c.204C>T	ENSP00000514788.1:p.Leu68=
ENST00000700090.1:c.204C>T	ENSP00000514789.1:p.Leu68=
ENST00000700091.1:c.204C>T	ENSP00000514790.1:p.Leu68=
ENST00000700092.1:c.204C>T	ENSP00000514791.1:p.Leu68=
ENST00000700093.1:c.204C>T	ENSP00000514792.1:p.Leu68=
ENST00000700094.1:c.204C>T	ENSP00000514793.1:p.Leu68=
ENST00000700095.1:c.204C>T	ENSP00000514794.1:p.Leu68=
ENST00000700096.1:c.204C>T	ENSP00000514795.1:p.Leu68=
ENST00000700097.1:c.204C>T	ENSP00000514796.1:p.Leu68=
ENST00000400897.8:c.204C>T MANE Select	ENSP00000383690.3:p.Leu68=
ENST00000400897.7:c.204C>T	ENSP00000383690.3:p.Leu68=
ENST00000400898.3:c.204C>T	ENSP00000383691.3:p.Leu68=
ENST00000480221.1:n.224C>T
NM_006610.3:c.204C>T	NP_006601.2:p.Leu68=
NM_139208.2:c.204C>T	NP_631947.1:p.Leu68=
XM_017000097.1:c.204C>T	XP_016855586.1:p.Leu68=
XR_001736931.1:n.236C>T
XR_001736932.1:n.236C>T
XR_002958895.1:n.236C>T
NM_006610.4:c.204C>T MANE Select	NP_006601.2:p.Leu68=
NM_139208.3:c.204C>T	NP_631947.1:p.Leu68=