Canonical Allele Identifier: CA16611028
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 408538
ClinVar RCV Id: RCV002230367
dbSNP Id: rs1060502027
MyVariant Identifiers: chr2:g.47690188del (hg19) chr2:g.47463049del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47463049del , CM000664.2:g.47463049del GRCh38
NC_000002.11:g.47690188del , CM000664.1:g.47690188del GRCh37
NC_000002.10:g.47543692del NCBI36
NG_007110.2:g.64926del , LRG_218:g.64926del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1405del ENSP00000495641.2:p.Val470Ter
ENST00000233146.7:c.1405del MANE Select ENSP00000233146.2:p.Val470Ter
ENST00000543555.6:c.1207del ENSP00000442697.1:p.Val404Ter
ENST00000644092.1:c.1405del ENSP00000496351.1:p.Val470Ter
ENST00000645339.1:c.1405del ENSP00000496441.1:p.Val470Ter
ENST00000645506.1:c.1405del ENSP00000495455.1:p.Val470Ter
ENST00000646415.1:c.1405del ENSP00000495543.1:p.Val470Ter
ENST00000233146.6:c.1405del ENSP00000233146.2:p.Val470Ter
ENST00000406134.5:c.1405del ENSP00000384199.1:p.Val470Ter
ENST00000543555.5:c.1207del ENSP00000442697.1:p.Val404Ter
ENST00000610696.4:c.1405del ENSP00000483159.1:p.Val470Ter
ENST00000613514.4:c.1405del ENSP00000484137.1:p.Val470Ter
ENST00000617333.3:c.*171del ENSP00000482468.1:n.*171del
ENST00000617938.4:c.*377del ENSP00000481158.1:n.*377del
ENST00000621359.2:c.1405del ENSP00000481416.1:p.Val470Ter
NM_000251.2:c.1405del , LRG_218t1:c.1405del NP_000242.1:p.Val470Ter
NM_001258281.1:c.1207del NP_001245210.1:p.Val404Ter
XM_005264332.2:c.1405del XP_005264389.2:p.Val470Ter
XM_011532867.1:c.1405del XP_011531169.1:p.Val470Ter
XR_939685.1:n.1477del
XM_005264332.4:c.1405del XP_005264389.2:p.Val470Ter
XM_011532867.2:c.1405del XP_011531169.1:p.Val470Ter
XR_001738747.2:n.1467del
XR_939685.2:n.1467del
NM_000251.3:c.1405del MANE Select NP_000242.1:p.Val470Ter
Search 100 bp 5'
Search 100 bp 3'