Canonical Allele Identifier: CA020773

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91005
• ClinVar RCV Id: RCV000076507 ; RCV000144616 ; RCV000491600 ; RCV002281910 ; RCV002228186
• dbSNP Id: rs63750849
• MyVariant Identifiers: chr2:g.47707955C>A (hg19) ; chr2:g.47480816C>A (hg38)
• PubMed: PMID:12655562 ; PMID:15849733 ; PMID:18559331 ; PMID:19659756 ; PMID:21642682 ; PMID:23604856

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480816C>A , CM000664.2:g.47480816C>A	GRCh38
NC_000002.11:g.47707955C>A , CM000664.1:g.47707955C>A	GRCh37
NC_000002.10:g.47561459C>A	NCBI36
NG_007110.2:g.82693C>A , LRG_218:g.82693C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2579C>A	ENSP00000495641.2:p.Ser860Ter
ENST00000233146.7:c.2579C>A MANE Select	ENSP00000233146.2:p.Ser860Ter
ENST00000543555.6:c.2381C>A	ENSP00000442697.1:p.Ser794Ter
ENST00000644092.1:c.*879C>A	ENSP00000496351.1:n.*879C>A
ENST00000644900.1:c.432C>A
ENST00000645339.1:c.2579C>A	ENSP00000496441.1:p.Ser860Ter
ENST00000645506.1:c.2579C>A	ENSP00000495455.1:p.Ser860Ter
ENST00000646415.1:c.2579C>A	ENSP00000495543.1:p.Ser860Ter
ENST00000233146.6:c.2579C>A	ENSP00000233146.2:p.Ser860Ter
ENST00000406134.5:c.2579C>A	ENSP00000384199.1:p.Ser860Ter
ENST00000461394.5:n.20C>A
ENST00000543555.5:c.2381C>A	ENSP00000442697.1:p.Ser794Ter
ENST00000610696.4:c.*975C>A	ENSP00000483159.1:n.*975C>A
ENST00000613514.4:c.*1119C>A	ENSP00000484137.1:n.*1119C>A
ENST00000617333.3:c.*1345C>A	ENSP00000482468.1:n.*1345C>A
ENST00000617938.4:c.*1551C>A	ENSP00000481158.1:n.*1551C>A
ENST00000621359.2:c.*145C>A	ENSP00000481416.1:n.*145C>A
NM_000251.2:c.2579C>A , LRG_218t1:c.2579C>A	NP_000242.1:p.Ser860Ter
NM_001258281.1:c.2381C>A	NP_001245210.1:p.Ser794Ter
XM_005264332.2:c.2579C>A	XP_005264389.2:p.Ser860Ter
XM_011532867.1:c.2579C>A	XP_011531169.1:p.Ser860Ter
XR_939685.1:n.2651C>A
XM_005264332.4:c.2579C>A	XP_005264389.2:p.Ser860Ter
XM_011532867.2:c.2579C>A	XP_011531169.1:p.Ser860Ter
XR_001738747.2:n.2641C>A
XR_939685.2:n.2641C>A
NM_000251.3:c.2579C>A MANE Select	NP_000242.1:p.Ser860Ter