Canonical Allele Identifier: CA346735032
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 1783582
ClinVar RCV Id: RCV002423454 RCV003108094
dbSNP Id: rs1572698406
gnomAD v4: 2-47783429-C-A
MyVariant Identifiers: chr2:g.48010568C>A (hg19) chr2:g.47783429C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783429C>A , CM000664.2:g.47783429C>A GRCh38
NC_000002.11:g.48010568C>A , CM000664.1:g.48010568C>A GRCh37
NC_000002.10:g.47864072C>A NCBI36
NG_007111.1:g.5283C>A , LRG_219:g.5283C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700004.2:c.196C>A ENSP00000514752.2:p.Pro66Thr
ENST00000699999.1:n.280C>A
ENST00000700000.1:c.196C>A ENSP00000514749.1:p.Pro66Thr
ENST00000700001.1:n.268C>A
ENST00000700002.1:c.196C>A ENSP00000514750.1:p.Pro66Thr
ENST00000700003.1:c.196C>A ENSP00000514751.1:p.Pro66Thr
ENST00000234420.11:c.196C>A MANE Select ENSP00000234420.5:p.Pro66Thr
ENST00000540021.6:c.196C>A ENSP00000446475.1:p.Pro66Thr
ENST00000652107.1:c.-37-7498C>A ENSP00000498629.1:n.-37-7498C>A
ENST00000673637.1:c.-38+198C>A ENSP00000501310.1:n.-38+198C>A
ENST00000673922.1:n.285C>A
ENST00000234420.9:c.196C>A ENSP00000234420.4:p.Pro66Thr
ENST00000445503.5:c.196C>A ENSP00000405294.1:p.Pro66Thr
ENST00000456246.1:c.196C>A ENSP00000410570.1:p.Pro66Thr
ENST00000493177.1:n.260C>A
ENST00000540021.5:c.196C>A ENSP00000446475.1:p.Pro66Thr
ENST00000606499.1:c.-37-7498C>A ENSP00000475605.1:n.-37-7498C>A
ENST00000614496.4:c.-541C>A ENSP00000477844.1:n.-541C>A
ENST00000616033.4:c.193C>A ENSP00000480261.1:p.Pro65Thr
ENST00000622629.4:c.-2901C>A ENSP00000482078.1:n.-2901C>A
NM_000179.2:c.196C>A , LRG_219t1:c.196C>A NP_000170.1:p.Pro66Thr
NM_001281492.1:c.196C>A NP_001268421.1:p.Pro66Thr
NM_001281493.1:c.-541C>A NP_001268422.1:n.-541C>A
XM_011532800.1:c.-38+198C>A XP_011531102.1:n.-38+198C>A
XM_024452819.1:c.196C>A XP_024308587.1:p.Pro66Thr
XM_024452822.1:c.-541C>A XP_024308590.1:n.-541C>A
NM_000179.3:c.196C>A MANE Select NP_000170.1:p.Pro66Thr
NM_001281492.2:c.196C>A NP_001268421.1:p.Pro66Thr
NM_001281493.2:c.-541C>A NP_001268422.1:n.-541C>A
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