Canonical Allele Identifier: CA017917

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90478
• ClinVar RCV Id: RCV000075973 ; RCV001137351 ; RCV002415550
• dbSNP Id: rs587779059
• gnomAD v2: 2-47710217-T-C
• gnomAD v3: 2-47483078-T-C
• gnomAD v4: 2-47483078-T-C
• MyVariant Identifiers: chr2:g.47710217T>C (hg19) ; chr2:g.47483078T>C (hg38)
• PubMed: PMID:22949379

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47483078T>C , CM000664.2:g.47483078T>C	GRCh38
NC_000002.11:g.47710217T>C , CM000664.1:g.47710217T>C	GRCh37
NC_000002.10:g.47563721T>C	NCBI36
NG_007110.2:g.84955T>C , LRG_218:g.84955T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+2207T>C	ENSP00000495641.2:n.2634+2207T>C
ENST00000233146.7:c.*129T>C MANE Select	ENSP00000233146.2:n.*129T>C
ENST00000543555.6:c.*129T>C	ENSP00000442697.1:n.*129T>C
ENST00000644092.1:c.*934+2207T>C	ENSP00000496351.1:n.*934+2207T>C
ENST00000644900.1:c.487+2207T>C
ENST00000645339.1:c.2634+2207T>C	ENSP00000496441.1:n.2634+2207T>C
ENST00000645506.1:c.2634+2207T>C	ENSP00000495455.1:n.2634+2207T>C
ENST00000646415.1:c.2634+2207T>C	ENSP00000495543.1:n.2634+2207T>C
ENST00000233146.6:c.*129T>C	ENSP00000233146.2:n.*129T>C
ENST00000406134.5:c.2634+2207T>C	ENSP00000384199.1:n.2634+2207T>C
ENST00000461394.5:n.75+2207T>C
ENST00000543555.5:c.*129T>C	ENSP00000442697.1:n.*129T>C
NM_000251.2:c.*129T>C , LRG_218t1:c.*129T>C	NP_000242.1:n.*129T>C
NM_001258281.1:c.*129T>C	NP_001245210.1:n.*129T>C
XM_005264332.2:c.2634+2207T>C	XP_005264389.2:n.2634+2207T>C
XM_011532867.1:c.2634+2207T>C	XP_011531169.1:n.2634+2207T>C
XR_939685.1:n.2706+2207T>C
XM_005264332.4:c.2634+2207T>C	XP_005264389.2:n.2634+2207T>C
XM_011532867.2:c.2634+2207T>C	XP_011531169.1:n.2634+2207T>C
XR_001738747.2:n.2696+2207T>C
XR_939685.2:n.2696+2207T>C
NM_000251.3:c.*129T>C MANE Select	NP_000242.1:n.*129T>C