Canonical Allele Identifier: CA10577995

Gene: MSH2

Linked Data

• ClinVar Variation Id: 233888
• ClinVar RCV Id: RCV000215510 ; RCV000462315 ; RCV000484436 ; RCV003454658
• dbSNP Id: rs876660711
• MyVariant Identifiers: chr2:g.47703530C>G (hg19) ; chr2:g.47476391C>G (hg38)
• PubMed: PMID:22086678 ; PMID:27432916

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47476391C>G , CM000664.2:g.47476391C>G	GRCh38
NC_000002.11:g.47703530C>G , CM000664.1:g.47703530C>G	GRCh37
NC_000002.10:g.47557034C>G	NCBI36
NG_007110.2:g.78268C>G , LRG_218:g.78268C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2030C>G	ENSP00000495641.2:p.Thr677Arg
ENST00000233146.7:c.2030C>G MANE Select	ENSP00000233146.2:p.Thr677Arg
ENST00000543555.6:c.1832C>G	ENSP00000442697.1:p.Thr611Arg
ENST00000644092.1:c.*330C>G	ENSP00000496351.1:n.*330C>G
ENST00000645339.1:c.2030C>G	ENSP00000496441.1:p.Thr677Arg
ENST00000645506.1:c.2030C>G	ENSP00000495455.1:p.Thr677Arg
ENST00000646415.1:c.2030C>G	ENSP00000495543.1:p.Thr677Arg
ENST00000233146.6:c.2030C>G	ENSP00000233146.2:p.Thr677Arg
ENST00000406134.5:c.2030C>G	ENSP00000384199.1:p.Thr677Arg
ENST00000543555.5:c.1832C>G	ENSP00000442697.1:p.Thr611Arg
ENST00000610696.4:c.*426C>G	ENSP00000483159.1:n.*426C>G
ENST00000613514.4:c.*570C>G	ENSP00000484137.1:n.*570C>G
ENST00000617333.3:c.*796C>G	ENSP00000482468.1:n.*796C>G
ENST00000617938.4:c.*1002C>G	ENSP00000481158.1:n.*1002C>G
ENST00000621359.2:c.2030C>G	ENSP00000481416.1:p.Thr677Arg
NM_000251.2:c.2030C>G , LRG_218t1:c.2030C>G	NP_000242.1:p.Thr677Arg
NM_001258281.1:c.1832C>G	NP_001245210.1:p.Thr611Arg
XM_005264332.2:c.2030C>G	XP_005264389.2:p.Thr677Arg
XM_011532867.1:c.2030C>G	XP_011531169.1:p.Thr677Arg
XR_939685.1:n.2102C>G
XM_005264332.4:c.2030C>G	XP_005264389.2:p.Thr677Arg
XM_011532867.2:c.2030C>G	XP_011531169.1:p.Thr677Arg
XR_001738747.2:n.2092C>G
XR_939685.2:n.2092C>G
NM_000251.3:c.2030C>G MANE Select	NP_000242.1:p.Thr677Arg