Canonical Allele Identifier: CA331582

Gene: MSH2

Linked Data

• ClinVar Variation Id: 91077
• ClinVar RCV Id: RCV000076579
• MyVariant Identifiers: chr2:g.47636781_47638831del (hg19) ; chr2:g.47409642_47411692del (hg38)
• PubMed: PMID:16941473

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47409642_47411692del , CM000664.2:g.47409642_47411692del	GRCh38
NC_000002.11:g.47636781_47638831del , CM000664.1:g.47636781_47638831del	GRCh37
NC_000002.10:g.47490285_47492335del	NCBI36
NG_007110.2:g.11519_13569del , LRG_218:g.11519_13569del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.367-452_646-722del
ENST00000233146.7:c.367-452_646-722del
ENST00000543555.6:c.169-452_448-722del
ENST00000644092.1:c.367-452_646-722del
ENST00000645339.1:c.367-452_646-722del
ENST00000645506.1:c.367-452_646-722del
ENST00000646415.1:c.367-452_646-722del
ENST00000233146.6:c.367-452_646-722del
ENST00000406134.5:c.367-452_646-722del
ENST00000543555.5:c.169-452_448-722del
ENST00000610696.4:c.367-452_646-722del
ENST00000613514.4:c.367-452_646-722del
ENST00000617333.3:c.367-452_646-722del
ENST00000617938.4:c.367-452_646-722del
ENST00000621359.2:c.367-452_646-722del
NM_000251.2:c.367-452_646-722del , LRG_218t1:c.367-452_646-722del
NM_001258281.1:c.169-452_448-722del
XM_005264332.2:c.367-452_646-722del
XM_011532867.1:c.367-452_646-722del
XR_939685.1:n.439-452_718-722del
XM_005264332.4:c.367-452_646-722del
XM_011532867.2:c.367-452_646-722del
XR_001738747.2:n.429-452_708-722del
XR_939685.2:n.429-452_708-722del
NM_000251.3:c.367-452_646-722del