Canonical Allele Identifier: CA017594

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90577
• ClinVar RCV Id: RCV000076073 ; RCV000160629 ; RCV000212600 ; RCV000411649 ; RCV000524336 ; RCV001554324
• dbSNP Id: rs63750086
• gnomAD v4: 2-47429890-CAG-C
• MyVariant Identifiers: chr2:g.47657030_47657031del (hg19) ; chr2:g.47429891_47429892del (hg38)
• PubMed: PMID:8872463 ; PMID:9611074 ; PMID:10323887 ; PMID:10564582 ; PMID:15955785 ; PMID:16216036 ; PMID:17312306 ; PMID:17569143 ; PMID:21778331 ; PMID:24244552 ; PMID:25559809 ; PMID:25712738 ; PMID:26552419 ; PMID:26845104

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429891_47429892del , CM000664.2:g.47429891_47429892del	GRCh38
NC_000002.11:g.47657030_47657031del , CM000664.1:g.47657030_47657031del	GRCh37
NC_000002.10:g.47510534_47510535del	NCBI36
NG_007110.2:g.31768_31769del , LRG_218:g.31768_31769del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1226_1227del	ENSP00000495641.2:p.Gln409ArgfsTer7
ENST00000233146.7:c.1226_1227del MANE Select	ENSP00000233146.2:p.Gln409ArgfsTer7
ENST00000543555.6:c.1028_1029del	ENSP00000442697.1:p.Gln343ArgfsTer7
ENST00000644092.1:c.1226_1227del	ENSP00000496351.1:p.Gln409ArgfsTer7
ENST00000645339.1:c.1226_1227del	ENSP00000496441.1:p.Gln409ArgfsTer7
ENST00000645506.1:c.1226_1227del	ENSP00000495455.1:p.Gln409ArgfsTer7
ENST00000646415.1:c.1226_1227del	ENSP00000495543.1:p.Gln409ArgfsTer7
ENST00000233146.6:c.1226_1227del	ENSP00000233146.2:p.Gln409ArgfsTer7
ENST00000406134.5:c.1226_1227del	ENSP00000384199.1:p.Gln409ArgfsTer7
ENST00000543555.5:c.1028_1029del	ENSP00000442697.1:p.Gln343ArgfsTer7
ENST00000610696.4:c.1226_1227del	ENSP00000483159.1:p.Gln409ArgfsTer7
ENST00000613514.4:c.1226_1227del	ENSP00000484137.1:p.Gln409ArgfsTer7
ENST00000617333.3:c.1225_1226del	ENSP00000482468.1:p.Arg409GlyfsTer?
ENST00000617938.4:c.*198_*199del	ENSP00000481158.1:n.*198_*199del
ENST00000621359.2:c.1226_1227del	ENSP00000481416.1:p.Gln409ArgfsTer7
NM_000251.2:c.1226_1227del , LRG_218t1:c.1226_1227del	NP_000242.1:p.Gln409ArgfsTer7
NM_001258281.1:c.1028_1029del	NP_001245210.1:p.Gln343ArgfsTer7
XM_005264332.2:c.1226_1227del	XP_005264389.2:p.Gln409ArgfsTer7
XM_011532867.1:c.1226_1227del	XP_011531169.1:p.Gln409ArgfsTer7
XR_939685.1:n.1298_1299del
XM_005264332.4:c.1226_1227del	XP_005264389.2:p.Gln409ArgfsTer7
XM_011532867.2:c.1226_1227del	XP_011531169.1:p.Gln409ArgfsTer7
XR_001738747.2:n.1288_1289del
XR_939685.2:n.1288_1289del
NM_000251.3:c.1226_1227del MANE Select	NP_000242.1:p.Gln409ArgfsTer7