Canonical Allele Identifier: CA338377793

Gene: MASP2

Linked Data

• MyVariant Identifiers: chr1:g.11090823T>C (hg19) ; chr1:g.11030766T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11030766T>C , CM000663.2:g.11030766T>C	GRCh38
NC_000001.10:g.11090823T>C , CM000663.1:g.11090823T>C	GRCh37
NC_000001.9:g.11013410T>C	NCBI36
NG_007289.1:g.21463A>G
NG_007289.2:g.21463A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699958.1:c.1099A>G	ENSP00000514717.1:p.Thr367Ala
ENST00000700088.1:c.1204A>G	ENSP00000514787.1:p.Thr402Ala
ENST00000700089.1:c.1201A>G	ENSP00000514788.1:n.1201A>G
ENST00000700090.1:c.1083A>G	ENSP00000514789.1:n.1083A>G
ENST00000700091.1:c.1006A>G	ENSP00000514790.1:p.Thr336Ala
ENST00000700092.1:c.1183A>G	ENSP00000514791.1:p.Thr395Ala
ENST00000700093.1:c.1180A>G	ENSP00000514792.1:p.Thr394Ala
ENST00000700094.1:c.1212A>G	ENSP00000514793.1:n.1212A>G
ENST00000700095.1:c.1204A>G	ENSP00000514794.1:p.Thr402Ala
ENST00000700096.1:c.1007A>G	ENSP00000514795.1:n.1007A>G
ENST00000700097.1:c.1204A>G	ENSP00000514796.1:p.Thr402Ala
ENST00000700098.1:n.726A>G
ENST00000400897.8:c.1204A>G MANE Select	ENSP00000383690.3:p.Thr402Ala
ENST00000400897.7:c.1204A>G	ENSP00000383690.3:p.Thr402Ala
NM_006610.3:c.1204A>G	NP_006601.2:p.Thr402Ala
XR_001736931.1:n.1157A>G
XR_002958895.1:n.1115A>G
NM_006610.4:c.1204A>G MANE Select	NP_006601.2:p.Thr402Ala