Canonical Allele Identifier: CA769439766

Gene: MSH2

Linked Data

• dbSNP Id: rs1447666533
• gnomAD v4: 2-47482697-AAATGAAAC-A
• MyVariant Identifiers: chr2:g.47709837_47709844del (hg19) ; chr2:g.47482698_47482705del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482701_47482708del , CM000664.2:g.47482701_47482708del	GRCh38
NC_000002.11:g.47709840_47709847del , CM000664.1:g.47709840_47709847del	GRCh37
NC_000002.10:g.47563344_47563351del	NCBI36
NG_007110.2:g.84578_84585del , LRG_218:g.84578_84585del

Transcript Alleles

HGVS	Amino-acid change
ENST00000644900.2:c.2634+1830_2634+1837del	ENSP00000495641.2:n.2634+1830_2634+1837de...
ENST00000233146.7:c.2635-78_2635-71del MANE Select	ENSP00000233146.2:n.2635-78_2635-71del
ENST00000543555.6:c.2437-78_2437-71del	ENSP00000442697.1:n.2437-78_2437-71del
ENST00000644092.1:c.*934+1830_*934+1837del	ENSP00000496351.1:n.*934+1830_*934+1837de...
ENST00000644900.1:c.487+1830_487+1837del
ENST00000645339.1:c.2634+1830_2634+1837del	ENSP00000496441.1:n.2634+1830_2634+1837de...
ENST00000645506.1:c.2634+1830_2634+1837del	ENSP00000495455.1:n.2634+1830_2634+1837de...
ENST00000646415.1:c.2634+1830_2634+1837del	ENSP00000495543.1:n.2634+1830_2634+1837de...
ENST00000233146.6:c.2635-78_2635-71del	ENSP00000233146.2:n.2635-78_2635-71del
ENST00000406134.5:c.2634+1830_2634+1837del	ENSP00000384199.1:n.2634+1830_2634+1837de...
ENST00000461394.5:n.75+1830_75+1837del
ENST00000543555.5:c.2437-78_2437-71del	ENSP00000442697.1:n.2437-78_2437-71del
ENST00000610696.4:c.*1031-78_*1031-71del	ENSP00000483159.1:n.*1031-78_*1031-71del
ENST00000613514.4:c.*1175-78_*1175-71del	ENSP00000484137.1:n.*1175-78_*1175-71del
ENST00000617333.3:c.*1401-78_*1401-71del	ENSP00000482468.1:n.*1401-78_*1401-71del
ENST00000617938.4:c.*1607-78_*1607-71del	ENSP00000481158.1:n.*1607-78_*1607-71del
ENST00000621359.2:c.*201-78_*201-71del	ENSP00000481416.1:n.*201-78_*201-71del
NM_000251.2:c.2635-78_2635-71del , LRG_218t1:c.2635-78_2635-71del	NP_000242.1:n.2635-78_2635-71del
NM_001258281.1:c.2437-78_2437-71del	NP_001245210.1:n.2437-78_2437-71del
XM_005264332.2:c.2634+1830_2634+1837del	XP_005264389.2:n.2634+1830_2634+1837del
XM_011532867.1:c.2634+1830_2634+1837del	XP_011531169.1:n.2634+1830_2634+1837del
XR_939685.1:n.2706+1830_2706+1837del
XM_005264332.4:c.2634+1830_2634+1837del	XP_005264389.2:n.2634+1830_2634+1837del
XM_011532867.2:c.2634+1830_2634+1837del	XP_011531169.1:n.2634+1830_2634+1837del
XR_001738747.2:n.2696+1830_2696+1837del
XR_939685.2:n.2696+1830_2696+1837del
NM_000251.3:c.2635-78_2635-71del MANE Select	NP_000242.1:n.2635-78_2635-71del