Canonical Allele Identifier: CA2495832740
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47412497_47412498delinsGT , CM000664.2:g.47412497_47412498delinsGT GRCh38
NC_000002.11:g.47639636_47639637delinsGT , CM000664.1:g.47639636_47639637delinsGT GRCh37
NC_000002.10:g.47493140_47493141delinsGT NCBI36
NG_007110.2:g.14374_14375delinsGT , LRG_218:g.14374_14375delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.729_730delinsGT ENSP00000495641.2:p.Arg243=
ENST00000233146.7:c.729_730delinsGT MANE Select ENSP00000233146.2:p.Arg243=
ENST00000543555.6:c.531_532delinsGT ENSP00000442697.1:p.Arg177=
ENST00000644092.1:c.729_730delinsGT ENSP00000496351.1:p.Arg243=
ENST00000645339.1:c.729_730delinsGT ENSP00000496441.1:p.Arg243=
ENST00000645506.1:c.729_730delinsGT ENSP00000495455.1:p.Arg243=
ENST00000646415.1:c.729_730delinsGT ENSP00000495543.1:p.Arg243=
ENST00000233146.6:c.729_730delinsGT ENSP00000233146.2:p.Arg243=
ENST00000406134.5:c.729_730delinsGT ENSP00000384199.1:p.Arg243=
ENST00000543555.5:c.531_532delinsGT ENSP00000442697.1:p.Arg177=
ENST00000610696.4:c.729_730delinsGT ENSP00000483159.1:p.Arg243=
ENST00000613514.4:c.729_730delinsGT ENSP00000484137.1:p.Arg243=
ENST00000617333.3:c.729_730delinsGT ENSP00000482468.1:p.Arg243=
ENST00000617938.4:c.729_730delinsGT ENSP00000481158.1:p.Arg243=
ENST00000621359.2:c.729_730delinsGT ENSP00000481416.1:p.Arg243=
NM_000251.2:c.729_730delinsGT , LRG_218t1:c.729_730delinsGT NP_000242.1:p.Arg243=
NM_001258281.1:c.531_532delinsGT NP_001245210.1:p.Arg177=
XM_005264332.2:c.729_730delinsGT XP_005264389.2:p.Arg243=
XM_011532867.1:c.729_730delinsGT XP_011531169.1:p.Arg243=
XR_939685.1:n.801_802delinsGT
XM_005264332.4:c.729_730delinsGT XP_005264389.2:p.Arg243=
XM_011532867.2:c.729_730delinsGT XP_011531169.1:p.Arg243=
XR_001738747.2:n.791_792delinsGT
XR_939685.2:n.791_792delinsGT
NM_000251.3:c.729_730delinsGT MANE Select NP_000242.1:p.Arg243=