Canonical Allele Identifier: CA16617586
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419730
ClinVar RCV Id: RCV000484239 RCV002402390
dbSNP Id: rs1064794071
MyVariant Identifiers: chr2:g.47698108_47698114del (hg19) chr2:g.47470969_47470975del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47470969_47470975del , CM000664.2:g.47470969_47470975del GRCh38
NC_000002.11:g.47698108_47698114del , CM000664.1:g.47698108_47698114del GRCh37
NC_000002.10:g.47551612_47551618del NCBI36
NG_007110.2:g.72846_72852del , LRG_218:g.72846_72852del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1666_1672del ENSP00000495641.2:p.Thr557Ter
ENST00000233146.7:c.1666_1672del MANE Select ENSP00000233146.2:p.Thr557Ter
ENST00000543555.6:c.1468_1474del ENSP00000442697.1:p.Thr491Ter
ENST00000644092.1:c.1662-19_1662-13del ENSP00000496351.1:n.1662-19_1662-13del
ENST00000645339.1:c.1666_1672del ENSP00000496441.1:p.Thr557Ter
ENST00000645506.1:c.1666_1672del ENSP00000495455.1:p.Thr557Ter
ENST00000646415.1:c.1666_1672del ENSP00000495543.1:p.Thr557Ter
ENST00000233146.6:c.1666_1672del ENSP00000233146.2:p.Thr557Ter
ENST00000406134.5:c.1666_1672del ENSP00000384199.1:p.Thr557Ter
ENST00000543555.5:c.1468_1474del ENSP00000442697.1:p.Thr491Ter
ENST00000610696.4:c.*62_*68del ENSP00000483159.1:n.*62_*68del
ENST00000613514.4:c.*206_*212del ENSP00000484137.1:n.*206_*212del
ENST00000617333.3:c.*432_*438del ENSP00000482468.1:n.*432_*438del
ENST00000617938.4:c.*638_*644del ENSP00000481158.1:n.*638_*644del
ENST00000621359.2:c.1666_1672del ENSP00000481416.1:p.Thr557Ter
NM_000251.2:c.1666_1672del , LRG_218t1:c.1666_1672del NP_000242.1:p.Thr557Ter
NM_001258281.1:c.1468_1474del NP_001245210.1:p.Thr491Ter
XM_005264332.2:c.1666_1672del XP_005264389.2:p.Thr557Ter
XM_011532867.1:c.1666_1672del XP_011531169.1:p.Thr557Ter
XR_939685.1:n.1738_1744del
XM_005264332.4:c.1666_1672del XP_005264389.2:p.Thr557Ter
XM_011532867.2:c.1666_1672del XP_011531169.1:p.Thr557Ter
XR_001738747.2:n.1728_1734del
XR_939685.2:n.1728_1734del
NM_000251.3:c.1666_1672del MANE Select NP_000242.1:p.Thr557Ter
Search 100 bp 5'
Search 100 bp 3'