Canonical Allele Identifier: CA586450

Gene: MASP2 TARDBP

Linked Data

• dbSNP Id: rs763180944
• ExAC: 1:11082240 C / T
• gnomAD v2: 1-11082240-C-T
• gnomAD v4: 1-11022183-C-T
• MyVariant Identifiers: chr1:g.11082240C>T (hg19) ; chr1:g.11022183C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11022183C>T , CM000663.2:g.11022183C>T	GRCh38
NC_000001.10:g.11082240C>T , CM000663.1:g.11082240C>T	GRCh37
NC_000001.9:g.11004827C>T	NCBI36
NG_008734.1:g.14562C>T , LRG_659:g.14562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700088.1:c.1407G>A (MASP2)	ENSP00000514787.1:p.Leu469=
ENST00000240185.8:c.774C>T (TARDBP) MANE Select	ENSP00000240185.4:p.Ser258=
ENST00000639083.1:c.774C>T (TARDBP)	ENSP00000491203.1:p.Ser258=
ENST00000639599.1:c.774C>T (TARDBP)	ENSP00000492196.1:p.Ser258=
ENST00000649624.1:c.768+6C>T (TARDBP)	ENSP00000497327.1:n.768+6C>T
ENST00000240185.7:c.774C>T (TARDBP)	ENSP00000240185.3:p.Ser258=
ENST00000315091.7:c.774C>T (TARDBP)	ENSP00000313129.3:p.Ser258=
ENST00000439080.6:c.*355C>T (TARDBP)	ENSP00000404666.3:n.*355C>T
ENST00000473869.5:c.774C>T (TARDBP)	ENSP00000432132.1:p.Ser258=
ENST00000477447.6:c.73C>T (TARDBP)
ENST00000610369.4:c.252C>T (TARDBP)	ENSP00000482559.1:p.Ser84=
ENST00000611136.4:c.154C>T
ENST00000611963.4:c.414C>T (TARDBP)	ENSP00000481330.1:p.Ser138=
ENST00000612542.1:c.40C>T
ENST00000614494.1:c.221+6C>T (TARDBP)
ENST00000614757.4:c.774C>T	ENSP00000481867.1:p.Ser258=
ENST00000616545.4:c.774C>T (TARDBP)	ENSP00000484722.1:p.Ser258=
ENST00000617172.4:c.515C>T (TARDBP)
ENST00000619555.4:c.325C>T (TARDBP)
ENST00000620632.4:c.325C>T (TARDBP)
ENST00000621715.4:c.603C>T (TARDBP)	ENSP00000480690.1:p.Ser201=
ENST00000621790.4:c.774C>T (TARDBP)	ENSP00000482191.1:p.Ser258=
ENST00000622057.4:c.521C>T (TARDBP)
ENST00000629725.2:c.774C>T (TARDBP)	ENSP00000486989.1:p.Ser258=
NM_007375.3:c.774C>T , LRG_659t1:c.774C>T (TARDBP)	NP_031401.1:p.Ser258=
XR_946596.1:n.896C>T (TARDBP)
XR_946597.1:n.896C>T (TARDBP)
XM_017000863.2:c.774C>T (TARDBP)	XP_016856352.1:p.Ser258=
XM_017000864.2:c.774C>T (TARDBP)	XP_016856353.1:p.Ser258=
XM_017000865.2:c.774C>T (TARDBP)	XP_016856354.1:p.Ser258=
XM_017000866.2:c.774C>T (TARDBP)	XP_016856355.1:p.Ser258=
XM_017000867.2:c.774C>T (TARDBP)	XP_016856356.1:p.Ser258=
XM_017000868.2:c.774C>T (TARDBP)	XP_016856357.1:p.Ser258=
NM_007375.4:c.774C>T (TARDBP) MANE Select	NP_031401.1:p.Ser258=