Canonical Allele Identifier: CA2699127586
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1667508048

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480919A>C , CM000664.2:g.47480919A>C GRCh38
NC_000002.11:g.47708058A>C , CM000664.1:g.47708058A>C GRCh37
NC_000002.10:g.47561562A>C NCBI36
NG_007110.2:g.82796A>C , LRG_218:g.82796A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+48A>C ENSP00000495641.2:n.2634+48A>C
ENST00000233146.7:c.2634+48A>C MANE Select ENSP00000233146.2:n.2634+48A>C
ENST00000543555.6:c.2436+48A>C ENSP00000442697.1:n.2436+48A>C
ENST00000644092.1:c.*934+48A>C ENSP00000496351.1:n.*934+48A>C
ENST00000644900.1:c.487+48A>C
ENST00000645339.1:c.2634+48A>C ENSP00000496441.1:n.2634+48A>C
ENST00000645506.1:c.2634+48A>C ENSP00000495455.1:n.2634+48A>C
ENST00000646415.1:c.2634+48A>C ENSP00000495543.1:n.2634+48A>C
ENST00000233146.6:c.2634+48A>C ENSP00000233146.2:n.2634+48A>C
ENST00000406134.5:c.2634+48A>C ENSP00000384199.1:n.2634+48A>C
ENST00000461394.5:n.75+48A>C
ENST00000543555.5:c.2436+48A>C ENSP00000442697.1:n.2436+48A>C
ENST00000610696.4:c.*1030+48A>C ENSP00000483159.1:n.*1030+48A>C
ENST00000613514.4:c.*1174+48A>C ENSP00000484137.1:n.*1174+48A>C
ENST00000617333.3:c.*1400+48A>C ENSP00000482468.1:n.*1400+48A>C
ENST00000617938.4:c.*1606+48A>C ENSP00000481158.1:n.*1606+48A>C
ENST00000621359.2:c.*200+48A>C ENSP00000481416.1:n.*200+48A>C
NM_000251.2:c.2634+48A>C , LRG_218t1:c.2634+48A>C NP_000242.1:n.2634+48A>C
NM_001258281.1:c.2436+48A>C NP_001245210.1:n.2436+48A>C
XM_005264332.2:c.2634+48A>C XP_005264389.2:n.2634+48A>C
XM_011532867.1:c.2634+48A>C XP_011531169.1:n.2634+48A>C
XR_939685.1:n.2706+48A>C
XM_005264332.4:c.2634+48A>C XP_005264389.2:n.2634+48A>C
XM_011532867.2:c.2634+48A>C XP_011531169.1:n.2634+48A>C
XR_001738747.2:n.2696+48A>C
XR_939685.2:n.2696+48A>C
NM_000251.3:c.2634+48A>C MANE Select NP_000242.1:n.2634+48A>C