Canonical Allele Identifier: CA020440

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90950
• ClinVar RCV Id: RCV000491833 ; RCV000684788
• dbSNP Id: rs63751105
• MyVariant Identifiers: chr2:g.47705492G>C (hg19) ; chr2:g.47478353G>C (hg38)
• PubMed: PMID:18987546

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478353G>C , CM000664.2:g.47478353G>C	GRCh38
NC_000002.11:g.47705492G>C , CM000664.1:g.47705492G>C	GRCh37
NC_000002.10:g.47558996G>C	NCBI36
NG_007110.2:g.80230G>C , LRG_218:g.80230G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2292G>C	ENSP00000495641.2:p.Trp764Cys
ENST00000233146.7:c.2292G>C MANE Select	ENSP00000233146.2:p.Trp764Cys
ENST00000543555.6:c.2094G>C	ENSP00000442697.1:p.Trp698Cys
ENST00000644092.1:c.*592G>C	ENSP00000496351.1:n.*592G>C
ENST00000644900.1:c.145G>C
ENST00000645339.1:c.2292G>C	ENSP00000496441.1:p.Trp764Cys
ENST00000645506.1:c.2292G>C	ENSP00000495455.1:p.Trp764Cys
ENST00000646415.1:c.2292G>C	ENSP00000495543.1:p.Trp764Cys
ENST00000233146.6:c.2292G>C	ENSP00000233146.2:p.Trp764Cys
ENST00000406134.5:c.2292G>C	ENSP00000384199.1:p.Trp764Cys
ENST00000543555.5:c.2094G>C	ENSP00000442697.1:p.Trp698Cys
ENST00000610696.4:c.*688G>C	ENSP00000483159.1:n.*688G>C
ENST00000613514.4:c.*832G>C	ENSP00000484137.1:n.*832G>C
ENST00000617333.3:c.*1058G>C	ENSP00000482468.1:n.*1058G>C
ENST00000617938.4:c.*1264G>C	ENSP00000481158.1:n.*1264G>C
ENST00000621359.2:c.2292G>C	ENSP00000481416.1:p.Trp764Cys
NM_000251.2:c.2292G>C , LRG_218t1:c.2292G>C	NP_000242.1:p.Trp764Cys
NM_001258281.1:c.2094G>C	NP_001245210.1:p.Trp698Cys
XM_005264332.2:c.2292G>C	XP_005264389.2:p.Trp764Cys
XM_011532867.1:c.2292G>C	XP_011531169.1:p.Trp764Cys
XR_939685.1:n.2364G>C
XM_005264332.4:c.2292G>C	XP_005264389.2:p.Trp764Cys
XM_011532867.2:c.2292G>C	XP_011531169.1:p.Trp764Cys
XR_001738747.2:n.2354G>C
XR_939685.2:n.2354G>C
NM_000251.3:c.2292G>C MANE Select	NP_000242.1:p.Trp764Cys