Canonical Allele Identifier: CA645369224

Gene: MSH2

Linked Data

• ClinVar Variation Id: 428447
• ClinVar RCV Id: RCV000491656 ; RCV000820959
• dbSNP Id: rs1114167805
• gnomAD v4: 2-47475232-AC-A
• MyVariant Identifiers: chr2:g.47702372del (hg19) ; chr2:g.47475233del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475233del , CM000664.2:g.47475233del	GRCh38
NC_000002.11:g.47702372del , CM000664.1:g.47702372del	GRCh37
NC_000002.10:g.47555876del	NCBI36
NG_007110.2:g.77110del , LRG_218:g.77110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1968del	ENSP00000495641.2:p.Phe657LeufsTer28
ENST00000233146.7:c.1968del MANE Select	ENSP00000233146.2:p.Phe657LeufsTer28
ENST00000543555.6:c.1770del	ENSP00000442697.1:p.Phe591LeufsTer28
ENST00000644092.1:c.*268del	ENSP00000496351.1:n.*268del
ENST00000645339.1:c.1968del	ENSP00000496441.1:p.Phe657LeufsTer28
ENST00000645506.1:c.1968del	ENSP00000495455.1:p.Phe657LeufsTer28
ENST00000646415.1:c.1968del	ENSP00000495543.1:p.Phe657LeufsTer28
ENST00000233146.6:c.1968del	ENSP00000233146.2:p.Phe657LeufsTer28
ENST00000406134.5:c.1968del	ENSP00000384199.1:p.Phe657LeufsTer28
ENST00000543555.5:c.1770del	ENSP00000442697.1:p.Phe591LeufsTer28
ENST00000610696.4:c.*364del	ENSP00000483159.1:n.*364del
ENST00000613514.4:c.*508del	ENSP00000484137.1:n.*508del
ENST00000617333.3:c.*734del	ENSP00000482468.1:n.*734del
ENST00000617938.4:c.*940del	ENSP00000481158.1:n.*940del
ENST00000621359.2:c.1968del	ENSP00000481416.1:p.Phe657LeufsTer28
NM_000251.2:c.1968del , LRG_218t1:c.1968del	NP_000242.1:p.Phe657LeufsTer28
NM_001258281.1:c.1770del	NP_001245210.1:p.Phe591LeufsTer28
XM_005264332.2:c.1968del	XP_005264389.2:p.Phe657LeufsTer28
XM_011532867.1:c.1968del	XP_011531169.1:p.Phe657LeufsTer28
XR_939685.1:n.2040del
XM_005264332.4:c.1968del	XP_005264389.2:p.Phe657LeufsTer28
XM_011532867.2:c.1968del	XP_011531169.1:p.Phe657LeufsTer28
XR_001738747.2:n.2030del
XR_939685.2:n.2030del
NM_000251.3:c.1968del MANE Select	NP_000242.1:p.Phe657LeufsTer28