Canonical Allele Identifier: CA210394

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90842
• ClinVar RCV Id: RCV000202092 ; RCV000216625 ; RCV001306540 ; RCV001356945
• dbSNP Id: rs587779125
• MyVariant Identifiers: chr2:g.47702412_47702423del (hg19) ; chr2:g.47475273_47475284del (hg38)
• PubMed: PMID:16288214 ; PMID:24278394

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475273_47475284del , CM000664.2:g.47475273_47475284del	GRCh38
NC_000002.11:g.47702412_47702423del , CM000664.1:g.47702412_47702423del	GRCh37
NC_000002.10:g.47555916_47555927del	NCBI36
NG_007110.2:g.77150_77161del , LRG_218:g.77150_77161del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2005+3_2005+14del
ENST00000233146.7:c.2005+3_2005+14del
ENST00000543555.6:c.1807+3_1807+14del
ENST00000644092.1:c.*305+3_*305+14del
ENST00000645339.1:c.2005+3_2005+14del
ENST00000645506.1:c.2005+3_2005+14del
ENST00000646415.1:c.2005+3_2005+14del
ENST00000233146.6:c.2005+3_2005+14del
ENST00000406134.5:c.2005+3_2005+14del
ENST00000543555.5:c.1807+3_1807+14del
ENST00000610696.4:c.*401+3_*401+14del
ENST00000613514.4:c.*545+3_*545+14del
ENST00000617333.3:c.*771+3_*771+14del
ENST00000617938.4:c.*977+3_*977+14del
ENST00000621359.2:c.2005+3_2005+14del
NM_000251.2:c.2005+3_2005+14del , LRG_218t1:c.2005+3_2005+14del
NM_001258281.1:c.1807+3_1807+14del
XM_005264332.2:c.2005+3_2005+14del
XM_011532867.1:c.2005+3_2005+14del
XR_939685.1:n.2077+3_2077+14del
XM_005264332.4:c.2005+3_2005+14del
XM_011532867.2:c.2005+3_2005+14del
XR_001738747.2:n.2067+3_2067+14del
XR_939685.2:n.2067+3_2067+14del
NM_000251.3:c.2005+3_2005+14del