Canonical Allele Identifier: CA260478
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 36563
ClinVar RCV Id: RCV000030236 RCV000630184
dbSNP Id: rs193922372
MyVariant Identifiers: chr2:g.47656815_47656950del (hg19) chr2:g.47656812_47656947del (hg19) chr2:g.47429676_47429811del (hg38) chr2:g.47429673_47429808del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47429676_47429811del , CM000664.2:g.47429676_47429811del GRCh38
NC_000002.11:g.47656815_47656950del , CM000664.1:g.47656815_47656950del GRCh37
NC_000002.10:g.47510319_47510454del NCBI36
NG_007110.2:g.31553_31688del , LRG_218:g.31553_31688del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.1077-66_1146del
ENST00000233146.7:c.1077-66_1146del
ENST00000543555.6:c.879-66_948del
ENST00000644092.1:c.1077-66_1146del
ENST00000645339.1:c.1077-66_1146del
ENST00000645506.1:c.1077-66_1146del
ENST00000646415.1:c.1077-66_1146del
ENST00000233146.6:c.1077-66_1146del
ENST00000406134.5:c.1077-66_1146del
ENST00000543555.5:c.879-66_948del
ENST00000610696.4:c.1077-66_1146del
ENST00000613514.4:c.1077-66_1146del
ENST00000617333.3:c.1077-66_1145del
ENST00000617938.4:c.*49-66_*118del
ENST00000621359.2:c.1077-66_1146del
NM_000251.2:c.1077-66_1146del , LRG_218t1:c.1077-66_1146del
NM_001258281.1:c.879-66_948del
XM_005264332.2:c.1077-66_1146del
XM_011532867.1:c.1077-66_1146del
XR_939685.1:n.1149-66_1218del
XM_005264332.4:c.1077-66_1146del
XM_011532867.2:c.1077-66_1146del
XR_001738747.2:n.1139-66_1208del
XR_939685.2:n.1139-66_1208del
NM_000251.3:c.1077-66_1146del
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