Canonical Allele Identifier: CA021405

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91134
• ClinVar RCV Id: RCV000076638 ; RCV000581973 ; RCV001240116 ; RCV001353422 ; RCV003466968
• dbSNP Id: rs63751444
• MyVariant Identifiers: chr2:g.47637426T>C (hg19) ; chr2:g.47410287T>C (hg38)
• PubMed: PMID:10995807 ; PMID:15849733 ; PMID:17101317 ; PMID:17192056 ; PMID:18383312 ; PMID:18951462 ; PMID:20176959 ; PMID:21120944

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47410287T>C , CM000664.2:g.47410287T>C	GRCh38
NC_000002.11:g.47637426T>C , CM000664.1:g.47637426T>C	GRCh37
NC_000002.10:g.47490930T>C	NCBI36
NG_007110.2:g.12164T>C , LRG_218:g.12164T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.560T>C	ENSP00000495641.2:p.Leu187Pro
ENST00000233146.7:c.560T>C MANE Select	ENSP00000233146.2:p.Leu187Pro
ENST00000543555.6:c.362T>C	ENSP00000442697.1:p.Leu121Pro
ENST00000644092.1:c.560T>C	ENSP00000496351.1:p.Leu187Pro
ENST00000645339.1:c.560T>C	ENSP00000496441.1:p.Leu187Pro
ENST00000645506.1:c.560T>C	ENSP00000495455.1:p.Leu187Pro
ENST00000646415.1:c.560T>C	ENSP00000495543.1:p.Leu187Pro
ENST00000233146.6:c.560T>C	ENSP00000233146.2:p.Leu187Pro
ENST00000406134.5:c.560T>C	ENSP00000384199.1:p.Leu187Pro
ENST00000454849.5:c.362T>C	ENSP00000411482.1:p.Leu121Pro
ENST00000543555.5:c.362T>C	ENSP00000442697.1:p.Leu121Pro
ENST00000610696.4:c.560T>C	ENSP00000483159.1:p.Leu187Pro
ENST00000613514.4:c.560T>C	ENSP00000484137.1:p.Leu187Pro
ENST00000617333.3:c.560T>C	ENSP00000482468.1:p.Leu187Pro
ENST00000617938.4:c.560T>C	ENSP00000481158.1:p.Leu187Pro
ENST00000621359.2:c.560T>C	ENSP00000481416.1:p.Leu187Pro
NM_000251.2:c.560T>C , LRG_218t1:c.560T>C	NP_000242.1:p.Leu187Pro
NM_001258281.1:c.362T>C	NP_001245210.1:p.Leu121Pro
XM_005264332.2:c.560T>C	XP_005264389.2:p.Leu187Pro
XM_011532867.1:c.560T>C	XP_011531169.1:p.Leu187Pro
XR_939685.1:n.632T>C
XM_005264332.4:c.560T>C	XP_005264389.2:p.Leu187Pro
XM_011532867.2:c.560T>C	XP_011531169.1:p.Leu187Pro
XR_001738747.2:n.622T>C
XR_939685.2:n.622T>C
NM_000251.3:c.560T>C MANE Select	NP_000242.1:p.Leu187Pro