Canonical Allele Identifier: CA020138

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90909
• ClinVar RCV Id: RCV000076411 ; RCV000214955 ; RCV000506389 ; RCV000627699 ; RCV001353948 ; RCV001804826
• dbSNP Id: rs587779139
• gnomAD v4: 2-47476513-C-T
• MyVariant Identifiers: chr2:g.47703652C>T (hg19) ; chr2:g.47476513C>T (hg38)
• PubMed: PMID:10612836 ; PMID:11910346 ; PMID:15222003 ; PMID:17440950 ; PMID:21681552 ; PMID:22321913 ; PMID:26289772 ; PMID:27007491

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476513C>T , CM000664.2:g.47476513C>T	GRCh38
NC_000002.11:g.47703652C>T , CM000664.1:g.47703652C>T	GRCh37
NC_000002.10:g.47557156C>T	NCBI36
NG_007110.2:g.78390C>T , LRG_218:g.78390C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2152C>T	ENSP00000495641.2:p.Gln718Ter
ENST00000233146.7:c.2152C>T MANE Select	ENSP00000233146.2:p.Gln718Ter
ENST00000543555.6:c.1954C>T	ENSP00000442697.1:p.Gln652Ter
ENST00000644092.1:c.*452C>T	ENSP00000496351.1:n.*452C>T
ENST00000644900.1:c.5C>T
ENST00000645339.1:c.2152C>T	ENSP00000496441.1:p.Gln718Ter
ENST00000645506.1:c.2152C>T	ENSP00000495455.1:p.Gln718Ter
ENST00000646415.1:c.2152C>T	ENSP00000495543.1:p.Gln718Ter
ENST00000233146.6:c.2152C>T	ENSP00000233146.2:p.Gln718Ter
ENST00000406134.5:c.2152C>T	ENSP00000384199.1:p.Gln718Ter
ENST00000543555.5:c.1954C>T	ENSP00000442697.1:p.Gln652Ter
ENST00000610696.4:c.*548C>T	ENSP00000483159.1:n.*548C>T
ENST00000613514.4:c.*692C>T	ENSP00000484137.1:n.*692C>T
ENST00000617333.3:c.*918C>T	ENSP00000482468.1:n.*918C>T
ENST00000617938.4:c.*1124C>T	ENSP00000481158.1:n.*1124C>T
ENST00000621359.2:c.2152C>T	ENSP00000481416.1:p.Gln718Ter
NM_000251.2:c.2152C>T , LRG_218t1:c.2152C>T	NP_000242.1:p.Gln718Ter
NM_001258281.1:c.1954C>T	NP_001245210.1:p.Gln652Ter
XM_005264332.2:c.2152C>T	XP_005264389.2:p.Gln718Ter
XM_011532867.1:c.2152C>T	XP_011531169.1:p.Gln718Ter
XR_939685.1:n.2224C>T
XM_005264332.4:c.2152C>T	XP_005264389.2:p.Gln718Ter
XM_011532867.2:c.2152C>T	XP_011531169.1:p.Gln718Ter
XR_001738747.2:n.2214C>T
XR_939685.2:n.2214C>T
NM_000251.3:c.2152C>T MANE Select	NP_000242.1:p.Gln718Ter