Canonical Allele Identifier: CA16610785

Gene: MSH2

Linked Data

• ClinVar Variation Id: 408522
• ClinVar RCV Id: RCV000458164 ; RCV001143790 ; RCV003129864 ; RCV004022694
• dbSNP Id: rs1060502019
• MyVariant Identifiers: chr2:g.47656997C>T (hg19) ; chr2:g.47429858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429858C>T , CM000664.2:g.47429858C>T	GRCh38
NC_000002.11:g.47656997C>T , CM000664.1:g.47656997C>T	GRCh37
NC_000002.10:g.47510501C>T	NCBI36
NG_007110.2:g.31735C>T , LRG_218:g.31735C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1193C>T	ENSP00000495641.2:p.Ala398Val
ENST00000233146.7:c.1193C>T MANE Select	ENSP00000233146.2:p.Ala398Val
ENST00000543555.6:c.995C>T	ENSP00000442697.1:p.Ala332Val
ENST00000644092.1:c.1193C>T	ENSP00000496351.1:p.Ala398Val
ENST00000645339.1:c.1193C>T	ENSP00000496441.1:p.Ala398Val
ENST00000645506.1:c.1193C>T	ENSP00000495455.1:p.Ala398Val
ENST00000646415.1:c.1193C>T	ENSP00000495543.1:p.Ala398Val
ENST00000233146.6:c.1193C>T	ENSP00000233146.2:p.Ala398Val
ENST00000406134.5:c.1193C>T	ENSP00000384199.1:p.Ala398Val
ENST00000543555.5:c.995C>T	ENSP00000442697.1:p.Ala332Val
ENST00000610696.4:c.1193C>T	ENSP00000483159.1:p.Ala398Val
ENST00000613514.4:c.1193C>T	ENSP00000484137.1:p.Ala398Val
ENST00000617333.3:c.1192C>T	ENSP00000482468.1:p.Gln398Ter
ENST00000617938.4:c.*165C>T	ENSP00000481158.1:n.*165C>T
ENST00000621359.2:c.1193C>T	ENSP00000481416.1:p.Ala398Val
NM_000251.2:c.1193C>T , LRG_218t1:c.1193C>T	NP_000242.1:p.Ala398Val
NM_001258281.1:c.995C>T	NP_001245210.1:p.Ala332Val
XM_005264332.2:c.1193C>T	XP_005264389.2:p.Ala398Val
XM_011532867.1:c.1193C>T	XP_011531169.1:p.Ala398Val
XR_939685.1:n.1265C>T
XM_005264332.4:c.1193C>T	XP_005264389.2:p.Ala398Val
XM_011532867.2:c.1193C>T	XP_011531169.1:p.Ala398Val
XR_001738747.2:n.1255C>T
XR_939685.2:n.1255C>T
NM_000251.3:c.1193C>T MANE Select	NP_000242.1:p.Ala398Val