Canonical Allele Identifier: CA2658944209
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1037333259
gnomAD v4: 2-47403134-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403134A>G , CM000664.2:g.47403134A>G GRCh38
NC_000002.11:g.47630273A>G , CM000664.1:g.47630273A>G GRCh37
NC_000002.10:g.47483777A>G NCBI36
NG_007110.2:g.5011A>G , LRG_218:g.5011A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000543555.6:c.-72A>G ENSP00000442697.1:n.-72A>G
ENST00000644092.1:c.-58A>G ENSP00000496351.1:n.-58A>G
ENST00000645339.1:c.-58A>G ENSP00000496441.1:n.-58A>G
ENST00000645506.1:c.-58A>G ENSP00000495455.1:n.-58A>G
ENST00000646415.1:c.-58A>G ENSP00000495543.1:n.-58A>G
ENST00000233146.6:c.-58A>G ENSP00000233146.2:n.-58A>G
ENST00000406134.5:c.-58A>G ENSP00000384199.1:n.-58A>G
ENST00000454849.5:c.-72A>G ENSP00000411482.1:n.-72A>G
ENST00000543555.5:c.-72A>G ENSP00000442697.1:n.-72A>G
NM_000251.2:c.-58A>G , LRG_218t1:c.-58A>G NP_000242.1:n.-58A>G
NM_001258281.1:c.-72A>G NP_001245210.1:n.-72A>G
XM_005264332.2:c.-58A>G XP_005264389.2:n.-58A>G
XM_011532867.1:c.-58A>G XP_011531169.1:n.-58A>G
XR_939685.1:n.15A>G
XM_005264332.4:c.-58A>G XP_005264389.2:n.-58A>G
XM_011532867.2:c.-58A>G XP_011531169.1:n.-58A>G
XR_001738747.2:n.5A>G
XR_939685.2:n.5A>G