Canonical Allele Identifier: CA10578025
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 232287
ClinVar RCV Id: RCV000222952 RCV000471165 RCV003997958
dbSNP Id: rs876659674
MyVariant Identifiers: chr2:g.48010522G>C (hg19) chr2:g.47783383G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783383G>C , CM000664.2:g.47783383G>C GRCh38
NC_000002.11:g.48010522G>C , CM000664.1:g.48010522G>C GRCh37
NC_000002.10:g.47864026G>C NCBI36
NG_007111.1:g.5237G>C , LRG_219:g.5237G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.150G>C ENSP00000514752.2:p.Trp50Cys
ENST00000699999.1:n.234G>C
ENST00000700000.1:c.150G>C ENSP00000514749.1:p.Trp50Cys
ENST00000700001.1:n.222G>C
ENST00000700002.1:c.150G>C ENSP00000514750.1:p.Trp50Cys
ENST00000700003.1:c.150G>C ENSP00000514751.1:p.Trp50Cys
ENST00000234420.11:c.150G>C MANE Select ENSP00000234420.5:p.Trp50Cys
ENST00000540021.6:c.150G>C ENSP00000446475.1:p.Trp50Cys
ENST00000652107.1:c.-37-7544G>C ENSP00000498629.1:n.-37-7544G>C
ENST00000673637.1:c.-38+152G>C ENSP00000501310.1:n.-38+152G>C
ENST00000673922.1:n.239G>C
ENST00000234420.9:c.150G>C ENSP00000234420.4:p.Trp50Cys
ENST00000445503.5:c.150G>C ENSP00000405294.1:p.Trp50Cys
ENST00000456246.1:c.150G>C ENSP00000410570.1:p.Trp50Cys
ENST00000493177.1:n.214G>C
ENST00000540021.5:c.150G>C ENSP00000446475.1:p.Trp50Cys
ENST00000606499.1:c.-37-7544G>C ENSP00000475605.1:n.-37-7544G>C
ENST00000614496.4:c.-587G>C ENSP00000477844.1:n.-587G>C
ENST00000616033.4:c.148G>C ENSP00000480261.1:p.Glu50Gln
ENST00000622629.4:c.-2947G>C ENSP00000482078.1:n.-2947G>C
NM_000179.2:c.150G>C , LRG_219t1:c.150G>C NP_000170.1:p.Trp50Cys
NM_001281492.1:c.150G>C NP_001268421.1:p.Trp50Cys
NM_001281493.1:c.-587G>C NP_001268422.1:n.-587G>C
XM_011532800.1:c.-38+152G>C XP_011531102.1:n.-38+152G>C
XM_024452819.1:c.150G>C XP_024308587.1:p.Trp50Cys
XM_024452822.1:c.-587G>C XP_024308590.1:n.-587G>C
NM_000179.3:c.150G>C MANE Select NP_000170.1:p.Trp50Cys
NM_001281492.2:c.150G>C NP_001268421.1:p.Trp50Cys
NM_001281493.2:c.-587G>C NP_001268422.1:n.-587G>C
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