Canonical Allele Identifier: CA2495826485
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs995976452
gnomAD v3: 2-47403151-G-A
gnomAD v4: 2-47403151-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403151G>A , CM000664.2:g.47403151G>A GRCh38
NC_000002.11:g.47630290G>A , CM000664.1:g.47630290G>A GRCh37
NC_000002.10:g.47483794G>A NCBI36
NG_007110.2:g.5028G>A , LRG_218:g.5028G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000543555.6:c.-55G>A ENSP00000442697.1:n.-55G>A
ENST00000644092.1:c.-41G>A ENSP00000496351.1:n.-41G>A
ENST00000645339.1:c.-41G>A ENSP00000496441.1:n.-41G>A
ENST00000645506.1:c.-41G>A ENSP00000495455.1:n.-41G>A
ENST00000646415.1:c.-41G>A ENSP00000495543.1:n.-41G>A
ENST00000233146.6:c.-41G>A ENSP00000233146.2:n.-41G>A
ENST00000406134.5:c.-41G>A ENSP00000384199.1:n.-41G>A
ENST00000454849.5:c.-55G>A ENSP00000411482.1:n.-55G>A
ENST00000543555.5:c.-55G>A ENSP00000442697.1:n.-55G>A
NM_000251.2:c.-41G>A , LRG_218t1:c.-41G>A NP_000242.1:n.-41G>A
NM_001258281.1:c.-55G>A NP_001245210.1:n.-55G>A
XM_005264332.2:c.-41G>A XP_005264389.2:n.-41G>A
XM_011532867.1:c.-41G>A XP_011531169.1:n.-41G>A
XR_939685.1:n.32G>A
XM_005264332.4:c.-41G>A XP_005264389.2:n.-41G>A
XM_011532867.2:c.-41G>A XP_011531169.1:n.-41G>A
XR_001738747.2:n.22G>A
XR_939685.2:n.22G>A