Canonical Allele Identifier: CA645372530

Gene: MSH2

Linked Data

• ClinVar Variation Id: 433906
• ClinVar RCV Id: RCV000503735 ; RCV002524135
• dbSNP Id: rs1553356518
• MyVariant Identifiers: chr2:g.47656881_47657080del (hg19) ; chr2:g.47429742_47429941del (hg38)
• PubMed: PMID:16143124

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47429742_47429941del , CM000664.2:g.47429742_47429941del	GRCh38
NC_000002.11:g.47656881_47657080del , CM000664.1:g.47656881_47657080del	GRCh37
NC_000002.10:g.47510385_47510584del	NCBI36
NG_007110.2:g.31619_31818del , LRG_218:g.31619_31818del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.1077_1276del
ENST00000233146.7:c.1077_1276del
ENST00000543555.6:c.879_1078del
ENST00000644092.1:c.1077_1276del
ENST00000645339.1:c.1077_1276del
ENST00000645506.1:c.1077_1276del
ENST00000646415.1:c.1077_1276del
ENST00000233146.6:c.1077_1276del
ENST00000406134.5:c.1077_1276del
ENST00000543555.5:c.879_1078del
ENST00000610696.4:c.1077_1276del
ENST00000613514.4:c.1077_1276del
ENST00000617333.3:c.1077_*42del
ENST00000617938.4:c.*49_*248del
ENST00000621359.2:c.1077_1276del
NM_000251.2:c.1077_1276del , LRG_218t1:c.1077_1276del
NM_001258281.1:c.879_1078del
XM_005264332.2:c.1077_1276del
XM_011532867.1:c.1077_1276del
XR_939685.1:n.1149_1348del
XM_005264332.4:c.1077_1276del
XM_011532867.2:c.1077_1276del
XR_001738747.2:n.1139_1338del
XR_939685.2:n.1139_1338del
NM_000251.3:c.1077_1276del