Canonical Allele Identifier: CA2495873352
Gene: MSH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47476375_47476376delinsAT , CM000664.2:g.47476375_47476376delinsAT GRCh38
NC_000002.11:g.47703514_47703515delinsAT , CM000664.1:g.47703514_47703515delinsAT GRCh37
NC_000002.10:g.47557018_47557019delinsAT NCBI36
NG_007110.2:g.78252_78253delinsAT , LRG_218:g.78252_78253delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2014_2015delinsAT ENSP00000495641.2:p.Met672=
ENST00000233146.7:c.2014_2015delinsAT MANE Select ENSP00000233146.2:p.Met672=
ENST00000543555.6:c.1816_1817delinsAT ENSP00000442697.1:p.Met606=
ENST00000644092.1:c.*314_*315delinsAT ENSP00000496351.1:n.*314_*315delinsAT
ENST00000645339.1:c.2014_2015delinsAT ENSP00000496441.1:p.Met672=
ENST00000645506.1:c.2014_2015delinsAT ENSP00000495455.1:p.Met672=
ENST00000646415.1:c.2014_2015delinsAT ENSP00000495543.1:p.Met672=
ENST00000233146.6:c.2014_2015delinsAT ENSP00000233146.2:p.Met672=
ENST00000406134.5:c.2014_2015delinsAT ENSP00000384199.1:p.Met672=
ENST00000543555.5:c.1816_1817delinsAT ENSP00000442697.1:p.Met606=
ENST00000610696.4:c.*410_*411delinsAT ENSP00000483159.1:n.*410_*411delinsAT
ENST00000613514.4:c.*554_*555delinsAT ENSP00000484137.1:n.*554_*555delinsAT
ENST00000617333.3:c.*780_*781delinsAT ENSP00000482468.1:n.*780_*781delinsAT
ENST00000617938.4:c.*986_*987delinsAT ENSP00000481158.1:n.*986_*987delinsAT
ENST00000621359.2:c.2014_2015delinsAT ENSP00000481416.1:p.Met672=
NM_000251.2:c.2014_2015delinsAT , LRG_218t1:c.2014_2015delinsAT NP_000242.1:p.Met672=
NM_001258281.1:c.1816_1817delinsAT NP_001245210.1:p.Met606=
XM_005264332.2:c.2014_2015delinsAT XP_005264389.2:p.Met672=
XM_011532867.1:c.2014_2015delinsAT XP_011531169.1:p.Met672=
XR_939685.1:n.2086_2087delinsAT
XM_005264332.4:c.2014_2015delinsAT XP_005264389.2:p.Met672=
XM_011532867.2:c.2014_2015delinsAT XP_011531169.1:p.Met672=
XR_001738747.2:n.2076_2077delinsAT
XR_939685.2:n.2076_2077delinsAT
NM_000251.3:c.2014_2015delinsAT MANE Select NP_000242.1:p.Met672=