Canonical Allele Identifier: CA2699268402
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs2104101599

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412454_47412455insTGAAAATTATAACATTGATAACTAT , CM000664.2:g.47412454_47412455insTGAAAATTATAACATTGATAACTAT GRCh38
NC_000002.11:g.47639593_47639594insTGAAAATTATAACATTGATAACTAT , CM000664.1:g.47639593_47639594insTGAAAATTATAACATTGATAACTAT GRCh37
NC_000002.10:g.47493097_47493098insTGAAAATTATAACATTGATAACTAT NCBI36
NG_007110.2:g.14331_14332insTGAAAATTATAACATTGATAACTAT , LRG_218:g.14331_14332insTGAAAATTATAACATTGATAACTAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000495641.2:p.Lys229AsnfsTer11
ENST00000233146.7:c.686_687insTGAAAATTATAACATTGATAACTAT MANE Select ENSP00000233146.2:p.Lys229AsnfsTer11
ENST00000543555.6:c.488_489insTGAAAATTATAACATTGATAACTAT ENSP00000442697.1:p.Lys163AsnfsTer11
ENST00000644092.1:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000496351.1:p.Lys229AsnfsTer11
ENST00000645339.1:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000496441.1:p.Lys229AsnfsTer11
ENST00000645506.1:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000495455.1:p.Lys229AsnfsTer11
ENST00000646415.1:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000495543.1:p.Lys229AsnfsTer11
ENST00000233146.6:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000233146.2:p.Lys229AsnfsTer11
ENST00000406134.5:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000384199.1:p.Lys229AsnfsTer11
ENST00000543555.5:c.488_489insTGAAAATTATAACATTGATAACTAT ENSP00000442697.1:p.Lys163AsnfsTer11
ENST00000610696.4:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000483159.1:p.Lys229AsnfsTer11
ENST00000613514.4:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000484137.1:p.Lys229AsnfsTer11
ENST00000617333.3:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000482468.1:p.Lys229AsnfsTer11
ENST00000617938.4:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000481158.1:p.Lys229AsnfsTer11
ENST00000621359.2:c.686_687insTGAAAATTATAACATTGATAACTAT ENSP00000481416.1:p.Lys229AsnfsTer11
NM_000251.2:c.686_687insTGAAAATTATAACATTGATAACTAT , LRG_218t1:c.686_687insTGAAAATTATAACATTGATAACTAT NP_000242.1:p.Lys229AsnfsTer11
NM_001258281.1:c.488_489insTGAAAATTATAACATTGATAACTAT NP_001245210.1:p.Lys163AsnfsTer11
XM_005264332.2:c.686_687insTGAAAATTATAACATTGATAACTAT XP_005264389.2:p.Lys229AsnfsTer11
XM_011532867.1:c.686_687insTGAAAATTATAACATTGATAACTAT XP_011531169.1:p.Lys229AsnfsTer11
XR_939685.1:n.758_759insTGAAAATTATAACATTGATAACTAT
XM_005264332.4:c.686_687insTGAAAATTATAACATTGATAACTAT XP_005264389.2:p.Lys229AsnfsTer11
XM_011532867.2:c.686_687insTGAAAATTATAACATTGATAACTAT XP_011531169.1:p.Lys229AsnfsTer11
XR_001738747.2:n.748_749insTGAAAATTATAACATTGATAACTAT
XR_939685.2:n.748_749insTGAAAATTATAACATTGATAACTAT
NM_000251.3:c.686_687insTGAAAATTATAACATTGATAACTAT MANE Select NP_000242.1:p.Lys229AsnfsTer11