Canonical Allele Identifier: CA338377764

Gene: MASP2

Linked Data

• MyVariant Identifiers: chr1:g.11090816T>A (hg19) ; chr1:g.11030759T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030759T>A , CM000663.2:g.11030759T>A	GRCh38
NC_000001.10:g.11090816T>A , CM000663.1:g.11090816T>A	GRCh37
NC_000001.9:g.11013403T>A	NCBI36
NG_007289.1:g.21470A>T
NG_007289.2:g.21470A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000699958.1:c.1106A>T	ENSP00000514717.1:p.Lys369Ile
ENST00000700088.1:c.1211A>T	ENSP00000514787.1:p.Lys404Ile
ENST00000700089.1:c.1208A>T	ENSP00000514788.1:n.1208A>T
ENST00000700090.1:c.1090A>T	ENSP00000514789.1:n.1090A>T
ENST00000700091.1:c.1013A>T	ENSP00000514790.1:p.Lys338Ile
ENST00000700092.1:c.1190A>T	ENSP00000514791.1:p.Lys397Ile
ENST00000700093.1:c.1187A>T	ENSP00000514792.1:p.Lys396Ile
ENST00000700094.1:c.1219A>T	ENSP00000514793.1:n.1219A>T
ENST00000700095.1:c.1211A>T	ENSP00000514794.1:p.Lys404Ile
ENST00000700096.1:c.1014A>T	ENSP00000514795.1:n.1014A>T
ENST00000700097.1:c.1211A>T	ENSP00000514796.1:p.Lys404Ile
ENST00000700098.1:n.733A>T
ENST00000400897.8:c.1211A>T MANE Select	ENSP00000383690.3:p.Lys404Ile
ENST00000400897.7:c.1211A>T	ENSP00000383690.3:p.Lys404Ile
NM_006610.3:c.1211A>T	NP_006601.2:p.Lys404Ile
XR_001736931.1:n.1164A>T
XR_002958895.1:n.1122A>T
NM_006610.4:c.1211A>T MANE Select	NP_006601.2:p.Lys404Ile