Canonical Allele Identifier: CA019579

Gene: MSH2

Linked Data

• ClinVar Variation Id: 90821
• ClinVar RCV Id: RCV000076323
• dbSNP Id: rs587779117
• MyVariant Identifiers: chr2:g.47702328_47702329del (hg19) ; chr2:g.47475189_47475190del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475189_47475190del , CM000664.2:g.47475189_47475190del	GRCh38
NC_000002.11:g.47702328_47702329del , CM000664.1:g.47702328_47702329del	GRCh37
NC_000002.10:g.47555832_47555833del	NCBI36
NG_007110.2:g.77066_77067del , LRG_218:g.77066_77067del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1924_1925del	ENSP00000495641.2:p.Val642Ter
ENST00000233146.7:c.1924_1925del MANE Select	ENSP00000233146.2:p.Val642Ter
ENST00000543555.6:c.1726_1727del	ENSP00000442697.1:p.Val576Ter
ENST00000644092.1:c.*224_*225del	ENSP00000496351.1:n.*224_*225del
ENST00000645339.1:c.1924_1925del	ENSP00000496441.1:p.Val642Ter
ENST00000645506.1:c.1924_1925del	ENSP00000495455.1:p.Val642Ter
ENST00000646415.1:c.1924_1925del	ENSP00000495543.1:p.Val642Ter
ENST00000233146.6:c.1924_1925del	ENSP00000233146.2:p.Val642Ter
ENST00000406134.5:c.1924_1925del	ENSP00000384199.1:p.Val642Ter
ENST00000543555.5:c.1726_1727del	ENSP00000442697.1:p.Val576Ter
ENST00000610696.4:c.*320_*321del	ENSP00000483159.1:n.*320_*321del
ENST00000613514.4:c.*464_*465del	ENSP00000484137.1:n.*464_*465del
ENST00000617333.3:c.*690_*691del	ENSP00000482468.1:n.*690_*691del
ENST00000617938.4:c.*896_*897del	ENSP00000481158.1:n.*896_*897del
ENST00000621359.2:c.1924_1925del	ENSP00000481416.1:p.Val642Ter
NM_000251.2:c.1924_1925del , LRG_218t1:c.1924_1925del	NP_000242.1:p.Val642Ter
NM_001258281.1:c.1726_1727del	NP_001245210.1:p.Val576Ter
XM_005264332.2:c.1924_1925del	XP_005264389.2:p.Val642Ter
XM_011532867.1:c.1924_1925del	XP_011531169.1:p.Val642Ter
XR_939685.1:n.1996_1997del
XM_005264332.4:c.1924_1925del	XP_005264389.2:p.Val642Ter
XM_011532867.2:c.1924_1925del	XP_011531169.1:p.Val642Ter
XR_001738747.2:n.1986_1987del
XR_939685.2:n.1986_1987del
NM_000251.3:c.1924_1925del MANE Select	NP_000242.1:p.Val642Ter