Canonical Allele Identifier: CA022212

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91201
• ClinVar RCV Id: RCV000076705
• dbSNP Id: rs63750329
• MyVariant Identifiers: chr2:g.47639670_47639673delinsTT (hg19) ; chr2:g.47412531_47412534delinsTT (hg38)
• PubMed: PMID:15217520

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47412531_47412534delinsTT , CM000664.2:g.47412531_47412534delinsTT	GRCh38
NC_000002.11:g.47639670_47639673delinsTT , CM000664.1:g.47639670_47639673delinsTT	GRCh37
NC_000002.10:g.47493174_47493177delinsTT	NCBI36
NG_007110.2:g.14408_14411delinsTT , LRG_218:g.14408_14411delinsTT

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.763_766delinsTT	ENSP00000495641.2:p.Ser255PhefsTer28
ENST00000233146.7:c.763_766delinsTT MANE Select	ENSP00000233146.2:p.Ser255PhefsTer28
ENST00000543555.6:c.565_568delinsTT	ENSP00000442697.1:p.Ser189PhefsTer28
ENST00000644092.1:c.763_766delinsTT	ENSP00000496351.1:p.Ser255PhefsTer28
ENST00000645339.1:c.763_766delinsTT	ENSP00000496441.1:p.Ser255PhefsTer28
ENST00000645506.1:c.763_766delinsTT	ENSP00000495455.1:p.Ser255PhefsTer28
ENST00000646415.1:c.763_766delinsTT	ENSP00000495543.1:p.Ser255PhefsTer28
ENST00000233146.6:c.763_766delinsTT	ENSP00000233146.2:p.Ser255PhefsTer28
ENST00000406134.5:c.763_766delinsTT	ENSP00000384199.1:p.Ser255PhefsTer28
ENST00000543555.5:c.565_568delinsTT	ENSP00000442697.1:p.Ser189PhefsTer28
ENST00000610696.4:c.763_766delinsTT	ENSP00000483159.1:p.Ser255PhefsTer28
ENST00000613514.4:c.763_766delinsTT	ENSP00000484137.1:p.Ser255PhefsTer28
ENST00000617333.3:c.763_766delinsTT	ENSP00000482468.1:p.Ser255PhefsTer28
ENST00000617938.4:c.763_766delinsTT	ENSP00000481158.1:p.Ser255PhefsTer28
ENST00000621359.2:c.763_766delinsTT	ENSP00000481416.1:p.Ser255PhefsTer28
NM_000251.2:c.763_766delinsTT , LRG_218t1:c.763_766delinsTT	NP_000242.1:p.Ser255PhefsTer28
NM_001258281.1:c.565_568delinsTT	NP_001245210.1:p.Ser189PhefsTer28
XM_005264332.2:c.763_766delinsTT	XP_005264389.2:p.Ser255PhefsTer28
XM_011532867.1:c.763_766delinsTT	XP_011531169.1:p.Ser255PhefsTer28
XR_939685.1:n.835_838delinsTT
XM_005264332.4:c.763_766delinsTT	XP_005264389.2:p.Ser255PhefsTer28
XM_011532867.2:c.763_766delinsTT	XP_011531169.1:p.Ser255PhefsTer28
XR_001738747.2:n.825_828delinsTT
XR_939685.2:n.825_828delinsTT
NM_000251.3:c.763_766delinsTT MANE Select	NP_000242.1:p.Ser255PhefsTer28