Canonical Allele Identifier: CA2658966209
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs2103950125
gnomAD v4: 2-47783662-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783662G>T , CM000664.2:g.47783662G>T GRCh38
NC_000002.11:g.48010801G>T , CM000664.1:g.48010801G>T GRCh37
NC_000002.10:g.47864305G>T NCBI36
NG_007111.1:g.5516G>T , LRG_219:g.5516G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000455383.6:c.-154G>T ENSP00000397484.2:n.-154G>T
ENST00000700004.2:c.260+169G>T ENSP00000514752.2:n.260+169G>T
ENST00000699999.1:n.344+169G>T
ENST00000700000.1:c.260+169G>T ENSP00000514749.1:n.260+169G>T
ENST00000700001.1:n.332+169G>T
ENST00000700002.1:c.260+169G>T ENSP00000514750.1:n.260+169G>T
ENST00000700003.1:c.260+169G>T ENSP00000514751.1:n.260+169G>T
ENST00000234420.11:c.260+169G>T MANE Select ENSP00000234420.5:n.260+169G>T
ENST00000540021.6:c.237+192G>T ENSP00000446475.1:n.237+192G>T
ENST00000652107.1:c.-37-7265G>T ENSP00000498629.1:n.-37-7265G>T
ENST00000673637.1:c.-38+431G>T ENSP00000501310.1:n.-38+431G>T
ENST00000673922.1:n.349+169G>T
ENST00000234420.9:c.260+169G>T ENSP00000234420.4:n.260+169G>T
ENST00000445503.5:c.260+169G>T ENSP00000405294.1:n.260+169G>T
ENST00000455383.5:c.-154G>T ENSP00000397484.1:n.-154G>T
ENST00000456246.1:c.260+169G>T ENSP00000410570.1:n.260+169G>T
ENST00000493177.1:n.324+169G>T
ENST00000540021.5:c.237+192G>T ENSP00000446475.1:n.237+192G>T
ENST00000606499.1:c.-37-7265G>T ENSP00000475605.1:n.-37-7265G>T
ENST00000614496.4:c.-477+169G>T ENSP00000477844.1:n.-477+169G>T
ENST00000616033.4:c.257+169G>T ENSP00000480261.1:n.257+169G>T
ENST00000622629.4:c.-2837+169G>T ENSP00000482078.1:n.-2837+169G>T
NM_000179.2:c.260+169G>T , LRG_219t1:c.260+169G>T NP_000170.1:n.260+169G>T
NM_001281492.1:c.237+192G>T NP_001268421.1:n.237+192G>T
NM_001281493.1:c.-477+169G>T NP_001268422.1:n.-477+169G>T
XM_011532799.1:c.-154G>T XP_011531101.1:n.-154G>T
XM_011532800.1:c.-38+431G>T XP_011531102.1:n.-38+431G>T
XM_024452819.1:c.260+169G>T XP_024308587.1:n.260+169G>T
XM_024452821.1:c.-154G>T XP_024308589.1:n.-154G>T
XM_024452822.1:c.-477+169G>T XP_024308590.1:n.-477+169G>T
NM_000179.3:c.260+169G>T MANE Select NP_000170.1:n.260+169G>T
NM_001281492.2:c.237+192G>T NP_001268421.1:n.237+192G>T
NM_001281493.2:c.-477+169G>T NP_001268422.1:n.-477+169G>T