Canonical Allele Identifier: CA2495826460
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs1672219851
gnomAD v4: 2-47403127-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403127G>T , CM000664.2:g.47403127G>T GRCh38
NC_000002.11:g.47630266G>T , CM000664.1:g.47630266G>T GRCh37
NC_000002.10:g.47483770G>T NCBI36
NG_007110.2:g.5004G>T , LRG_218:g.5004G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-79G>T ENSP00000442697.1:n.-79G>T
ENST00000644092.1:c.-65G>T ENSP00000496351.1:n.-65G>T
ENST00000645339.1:c.-65G>T ENSP00000496441.1:n.-65G>T
ENST00000645506.1:c.-65G>T ENSP00000495455.1:n.-65G>T
ENST00000646415.1:c.-65G>T ENSP00000495543.1:n.-65G>T
ENST00000233146.6:c.-65G>T ENSP00000233146.2:n.-65G>T
ENST00000454849.5:c.-79G>T ENSP00000411482.1:n.-79G>T
ENST00000543555.5:c.-79G>T ENSP00000442697.1:n.-79G>T
NM_000251.2:c.-65G>T , LRG_218t1:c.-65G>T NP_000242.1:n.-65G>T
NM_001258281.1:c.-79G>T NP_001245210.1:n.-79G>T
XM_005264332.2:c.-65G>T XP_005264389.2:n.-65G>T
XM_011532867.1:c.-65G>T XP_011531169.1:n.-65G>T
XR_939685.1:n.8G>T