Canonical Allele Identifier: CA019397

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90796
• ClinVar RCV Id: RCV000076297 ; RCV000491249 ; RCV000531842 ; RCV003323385 ; RCV003452859
• dbSNP Id: rs587779112
• MyVariant Identifiers: chr2:g.47702231del (hg19) ; chr2:g.47475092del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475092del , CM000664.2:g.47475092del	GRCh38
NC_000002.11:g.47702231del , CM000664.1:g.47702231del	GRCh37
NC_000002.10:g.47555735del	NCBI36
NG_007110.2:g.76969del , LRG_218:g.76969del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1827del	ENSP00000495641.2:p.His610ThrfsTer25
ENST00000233146.7:c.1827del MANE Select	ENSP00000233146.2:p.His610ThrfsTer25
ENST00000543555.6:c.1629del	ENSP00000442697.1:p.His544ThrfsTer25
ENST00000644092.1:c.*127del	ENSP00000496351.1:n.*127del
ENST00000645339.1:c.1827del	ENSP00000496441.1:p.His610ThrfsTer25
ENST00000645506.1:c.1827del	ENSP00000495455.1:p.His610ThrfsTer25
ENST00000646415.1:c.1827del	ENSP00000495543.1:p.His610ThrfsTer25
ENST00000233146.6:c.1827del	ENSP00000233146.2:p.His610ThrfsTer25
ENST00000406134.5:c.1827del	ENSP00000384199.1:p.His610ThrfsTer25
ENST00000543555.5:c.1629del	ENSP00000442697.1:p.His544ThrfsTer25
ENST00000610696.4:c.*223del	ENSP00000483159.1:n.*223del
ENST00000613514.4:c.*367del	ENSP00000484137.1:n.*367del
ENST00000617333.3:c.*593del	ENSP00000482468.1:n.*593del
ENST00000617938.4:c.*799del	ENSP00000481158.1:n.*799del
ENST00000621359.2:c.1827del	ENSP00000481416.1:p.His610ThrfsTer25
NM_000251.2:c.1827del , LRG_218t1:c.1827del	NP_000242.1:p.His610ThrfsTer25
NM_001258281.1:c.1629del	NP_001245210.1:p.His544ThrfsTer25
XM_005264332.2:c.1827del	XP_005264389.2:p.His610ThrfsTer25
XM_011532867.1:c.1827del	XP_011531169.1:p.His610ThrfsTer25
XR_939685.1:n.1899del
XM_005264332.4:c.1827del	XP_005264389.2:p.His610ThrfsTer25
XM_011532867.2:c.1827del	XP_011531169.1:p.His610ThrfsTer25
XR_001738747.2:n.1889del
XR_939685.2:n.1889del
NM_000251.3:c.1827del MANE Select	NP_000242.1:p.His610ThrfsTer25