Canonical Allele Identifier: CA346729997

Gene: MSH2

Linked Data

• ClinVar Variation Id: 631306
• ClinVar RCV Id: RCV000777487
• dbSNP Id: rs1558521925
• MyVariant Identifiers: chr2:g.47705559C>G (hg19) ; chr2:g.47478420C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478420C>G , CM000664.2:g.47478420C>G	GRCh38
NC_000002.11:g.47705559C>G , CM000664.1:g.47705559C>G	GRCh37
NC_000002.10:g.47559063C>G	NCBI36
NG_007110.2:g.80297C>G , LRG_218:g.80297C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2359C>G	ENSP00000495641.2:p.Leu787Val
ENST00000233146.7:c.2359C>G MANE Select	ENSP00000233146.2:p.Leu787Val
ENST00000543555.6:c.2161C>G	ENSP00000442697.1:p.Leu721Val
ENST00000644092.1:c.*659C>G	ENSP00000496351.1:n.*659C>G
ENST00000644900.1:c.212C>G
ENST00000645339.1:c.2359C>G	ENSP00000496441.1:p.Leu787Val
ENST00000645506.1:c.2359C>G	ENSP00000495455.1:p.Leu787Val
ENST00000646415.1:c.2359C>G	ENSP00000495543.1:p.Leu787Val
ENST00000233146.6:c.2359C>G	ENSP00000233146.2:p.Leu787Val
ENST00000406134.5:c.2359C>G	ENSP00000384199.1:p.Leu787Val
ENST00000543555.5:c.2161C>G	ENSP00000442697.1:p.Leu721Val
ENST00000610696.4:c.*755C>G	ENSP00000483159.1:n.*755C>G
ENST00000613514.4:c.*899C>G	ENSP00000484137.1:n.*899C>G
ENST00000617333.3:c.*1125C>G	ENSP00000482468.1:n.*1125C>G
ENST00000617938.4:c.*1331C>G	ENSP00000481158.1:n.*1331C>G
ENST00000621359.2:c.2358C>G	ENSP00000481416.1:p.Asn786Lys
NM_000251.2:c.2359C>G , LRG_218t1:c.2359C>G	NP_000242.1:p.Leu787Val
NM_001258281.1:c.2161C>G	NP_001245210.1:p.Leu721Val
XM_005264332.2:c.2359C>G	XP_005264389.2:p.Leu787Val
XM_011532867.1:c.2359C>G	XP_011531169.1:p.Leu787Val
XR_939685.1:n.2431C>G
XM_005264332.4:c.2359C>G	XP_005264389.2:p.Leu787Val
XM_011532867.2:c.2359C>G	XP_011531169.1:p.Leu787Val
XR_001738747.2:n.2421C>G
XR_939685.2:n.2421C>G
NM_000251.3:c.2359C>G MANE Select	NP_000242.1:p.Leu787Val