Canonical Allele Identifier: CA769439697

Gene: MSH2

Linked Data

• dbSNP Id: rs201792963
• gnomAD v3: 2-47482657-TAA-T
• gnomAD v4: 2-47482657-TAA-T
• MyVariant Identifiers: chr2:g.47709797_47709798del (hg19) ; chr2:g.47482658_47482659del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47482666_47482667del , CM000664.2:g.47482666_47482667del	GRCh38
NC_000002.11:g.47709805_47709806del , CM000664.1:g.47709805_47709806del	GRCh37
NC_000002.10:g.47563309_47563310del	NCBI36
NG_007110.2:g.84543_84544del , LRG_218:g.84543_84544del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2634+1795_2634+1796del	ENSP00000495641.2:n.2634+1795_2634+1796del
ENST00000233146.7:c.2635-113_2635-112del MANE Select	ENSP00000233146.2:n.2635-113_2635-112del
ENST00000543555.6:c.2437-113_2437-112del	ENSP00000442697.1:n.2437-113_2437-112del
ENST00000644092.1:c.*934+1795_*934+1796del	ENSP00000496351.1:n.*934+1795_*934+1796del
ENST00000644900.1:c.487+1795_487+1796del
ENST00000645339.1:c.2634+1795_2634+1796del	ENSP00000496441.1:n.2634+1795_2634+1796del
ENST00000645506.1:c.2634+1795_2634+1796del	ENSP00000495455.1:n.2634+1795_2634+1796del
ENST00000646415.1:c.2634+1795_2634+1796del	ENSP00000495543.1:n.2634+1795_2634+1796del
ENST00000233146.6:c.2635-113_2635-112del	ENSP00000233146.2:n.2635-113_2635-112del
ENST00000406134.5:c.2634+1795_2634+1796del	ENSP00000384199.1:n.2634+1795_2634+1796del
ENST00000461394.5:n.75+1795_75+1796del
ENST00000543555.5:c.2437-113_2437-112del	ENSP00000442697.1:n.2437-113_2437-112del
ENST00000610696.4:c.*1031-113_*1031-112del	ENSP00000483159.1:n.*1031-113_*1031-112del
ENST00000613514.4:c.*1175-113_*1175-112del	ENSP00000484137.1:n.*1175-113_*1175-112del
ENST00000617333.3:c.*1401-113_*1401-112del	ENSP00000482468.1:n.*1401-113_*1401-112del
ENST00000617938.4:c.*1607-113_*1607-112del	ENSP00000481158.1:n.*1607-113_*1607-112del
ENST00000621359.2:c.*201-113_*201-112del	ENSP00000481416.1:n.*201-113_*201-112del
NM_000251.2:c.2635-113_2635-112del , LRG_218t1:c.2635-113_2635-112del	NP_000242.1:n.2635-113_2635-112del
NM_001258281.1:c.2437-113_2437-112del	NP_001245210.1:n.2437-113_2437-112del
XM_005264332.2:c.2634+1795_2634+1796del	XP_005264389.2:n.2634+1795_2634+1796del
XM_011532867.1:c.2634+1795_2634+1796del	XP_011531169.1:n.2634+1795_2634+1796del
XR_939685.1:n.2706+1795_2706+1796del
XM_005264332.4:c.2634+1795_2634+1796del	XP_005264389.2:n.2634+1795_2634+1796del
XM_011532867.2:c.2634+1795_2634+1796del	XP_011531169.1:n.2634+1795_2634+1796del
XR_001738747.2:n.2696+1795_2696+1796del
XR_939685.2:n.2696+1795_2696+1796del
NM_000251.3:c.2635-113_2635-112del MANE Select	NP_000242.1:n.2635-113_2635-112del