Canonical Allele Identifier: CA018102

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90640
• ClinVar RCV Id: RCV000076136 ; RCV000160582 ; RCV002381387 ; RCV003452827
• dbSNP Id: rs63750521
• MyVariant Identifiers: chr2:g.47672783T>G (hg19) ; chr2:g.47445644T>G (hg38)
• PubMed: PMID:8062247 ; PMID:9036882 ; PMID:10432927 ; PMID:10564582 ; PMID:11304573 ; PMID:15235030 ; PMID:15849733 ; PMID:16216036 ; PMID:17139886

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47445644T>G , CM000664.2:g.47445644T>G	GRCh38
NC_000002.11:g.47672783T>G , CM000664.1:g.47672783T>G	GRCh37
NC_000002.10:g.47526287T>G	NCBI36
NG_007110.2:g.47521T>G , LRG_218:g.47521T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1373T>G	ENSP00000495641.2:p.Leu458Ter
ENST00000233146.7:c.1373T>G MANE Select	ENSP00000233146.2:p.Leu458Ter
ENST00000543555.6:c.1175T>G	ENSP00000442697.1:p.Leu392Ter
ENST00000644092.1:c.1373T>G	ENSP00000496351.1:p.Leu458Ter
ENST00000645339.1:c.1373T>G	ENSP00000496441.1:p.Leu458Ter
ENST00000645506.1:c.1373T>G	ENSP00000495455.1:p.Leu458Ter
ENST00000646415.1:c.1373T>G	ENSP00000495543.1:p.Leu458Ter
ENST00000233146.6:c.1373T>G	ENSP00000233146.2:p.Leu458Ter
ENST00000406134.5:c.1373T>G	ENSP00000384199.1:p.Leu458Ter
ENST00000543555.5:c.1175T>G	ENSP00000442697.1:p.Leu392Ter
ENST00000610696.4:c.1373T>G	ENSP00000483159.1:p.Leu458Ter
ENST00000613514.4:c.1373T>G	ENSP00000484137.1:p.Leu458Ter
ENST00000617333.3:c.*139T>G	ENSP00000482468.1:n.*139T>G
ENST00000617938.4:c.*345T>G	ENSP00000481158.1:n.*345T>G
ENST00000621359.2:c.1373T>G	ENSP00000481416.1:p.Leu458Ter
NM_000251.2:c.1373T>G , LRG_218t1:c.1373T>G	NP_000242.1:p.Leu458Ter
NM_001258281.1:c.1175T>G	NP_001245210.1:p.Leu392Ter
XM_005264332.2:c.1373T>G	XP_005264389.2:p.Leu458Ter
XM_011532867.1:c.1373T>G	XP_011531169.1:p.Leu458Ter
XR_939685.1:n.1445T>G
XM_005264332.4:c.1373T>G	XP_005264389.2:p.Leu458Ter
XM_011532867.2:c.1373T>G	XP_011531169.1:p.Leu458Ter
XR_001738747.2:n.1435T>G
XR_939685.2:n.1435T>G
NM_000251.3:c.1373T>G MANE Select	NP_000242.1:p.Leu458Ter