Canonical Allele Identifier: CA279719

Gene: MSH2

Linked Data

• ClinVar Variation Id: 218045
• ClinVar RCV Id: RCV000202080 ; RCV000491337 ; RCV000800051 ; RCV003454522
• dbSNP Id: rs863225395
• MyVariant Identifiers: chr2:g.47705500C>G (hg19) ; chr2:g.47478361C>G (hg38)
• PubMed: PMID:24969397 ; PMID:25213213

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478361C>G , CM000664.2:g.47478361C>G	GRCh38
NC_000002.11:g.47705500C>G , CM000664.1:g.47705500C>G	GRCh37
NC_000002.10:g.47559004C>G	NCBI36
NG_007110.2:g.80238C>G , LRG_218:g.80238C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2300C>G	ENSP00000495641.2:p.Ser767Ter
ENST00000233146.7:c.2300C>G MANE Select	ENSP00000233146.2:p.Ser767Ter
ENST00000543555.6:c.2102C>G	ENSP00000442697.1:p.Ser701Ter
ENST00000644092.1:c.*600C>G	ENSP00000496351.1:n.*600C>G
ENST00000644900.1:c.153C>G
ENST00000645339.1:c.2300C>G	ENSP00000496441.1:p.Ser767Ter
ENST00000645506.1:c.2300C>G	ENSP00000495455.1:p.Ser767Ter
ENST00000646415.1:c.2300C>G	ENSP00000495543.1:p.Ser767Ter
ENST00000233146.6:c.2300C>G	ENSP00000233146.2:p.Ser767Ter
ENST00000406134.5:c.2300C>G	ENSP00000384199.1:p.Ser767Ter
ENST00000543555.5:c.2102C>G	ENSP00000442697.1:p.Ser701Ter
ENST00000610696.4:c.*696C>G	ENSP00000483159.1:n.*696C>G
ENST00000613514.4:c.*840C>G	ENSP00000484137.1:n.*840C>G
ENST00000617333.3:c.*1066C>G	ENSP00000482468.1:n.*1066C>G
ENST00000617938.4:c.*1272C>G	ENSP00000481158.1:n.*1272C>G
ENST00000621359.2:c.2300C>G	ENSP00000481416.1:p.Ser767Ter
NM_000251.2:c.2300C>G , LRG_218t1:c.2300C>G	NP_000242.1:p.Ser767Ter
NM_001258281.1:c.2102C>G	NP_001245210.1:p.Ser701Ter
XM_005264332.2:c.2300C>G	XP_005264389.2:p.Ser767Ter
XM_011532867.1:c.2300C>G	XP_011531169.1:p.Ser767Ter
XR_939685.1:n.2372C>G
XM_005264332.4:c.2300C>G	XP_005264389.2:p.Ser767Ter
XM_011532867.2:c.2300C>G	XP_011531169.1:p.Ser767Ter
XR_001738747.2:n.2362C>G
XR_939685.2:n.2362C>G
NM_000251.3:c.2300C>G MANE Select	NP_000242.1:p.Ser767Ter