Canonical Allele Identifier: CA2699081480
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs761047225

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480912T>A , CM000664.2:g.47480912T>A GRCh38
NC_000002.11:g.47708051T>A , CM000664.1:g.47708051T>A GRCh37
NC_000002.10:g.47561555T>A NCBI36
NG_007110.2:g.82789T>A , LRG_218:g.82789T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2634+41T>A ENSP00000495641.2:n.2634+41T>A
ENST00000233146.7:c.2634+41T>A MANE Select ENSP00000233146.2:n.2634+41T>A
ENST00000543555.6:c.2436+41T>A ENSP00000442697.1:n.2436+41T>A
ENST00000644092.1:c.*934+41T>A ENSP00000496351.1:n.*934+41T>A
ENST00000644900.1:c.487+41T>A
ENST00000645339.1:c.2634+41T>A ENSP00000496441.1:n.2634+41T>A
ENST00000645506.1:c.2634+41T>A ENSP00000495455.1:n.2634+41T>A
ENST00000646415.1:c.2634+41T>A ENSP00000495543.1:n.2634+41T>A
ENST00000233146.6:c.2634+41T>A ENSP00000233146.2:n.2634+41T>A
ENST00000406134.5:c.2634+41T>A ENSP00000384199.1:n.2634+41T>A
ENST00000461394.5:n.75+41T>A
ENST00000543555.5:c.2436+41T>A ENSP00000442697.1:n.2436+41T>A
ENST00000610696.4:c.*1030+41T>A ENSP00000483159.1:n.*1030+41T>A
ENST00000613514.4:c.*1174+41T>A ENSP00000484137.1:n.*1174+41T>A
ENST00000617333.3:c.*1400+41T>A ENSP00000482468.1:n.*1400+41T>A
ENST00000617938.4:c.*1606+41T>A ENSP00000481158.1:n.*1606+41T>A
ENST00000621359.2:c.*200+41T>A ENSP00000481416.1:n.*200+41T>A
NM_000251.2:c.2634+41T>A , LRG_218t1:c.2634+41T>A NP_000242.1:n.2634+41T>A
NM_001258281.1:c.2436+41T>A NP_001245210.1:n.2436+41T>A
XM_005264332.2:c.2634+41T>A XP_005264389.2:n.2634+41T>A
XM_011532867.1:c.2634+41T>A XP_011531169.1:n.2634+41T>A
XR_939685.1:n.2706+41T>A
XM_005264332.4:c.2634+41T>A XP_005264389.2:n.2634+41T>A
XM_011532867.2:c.2634+41T>A XP_011531169.1:n.2634+41T>A
XR_001738747.2:n.2696+41T>A
XR_939685.2:n.2696+41T>A
NM_000251.3:c.2634+41T>A MANE Select NP_000242.1:n.2634+41T>A