Canonical Allele Identifier: CA346756219

Linked Data

dbSNP Id: rs2104431936

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47800922A>T , CM000664.2:g.47800922A>T GRCh38
NC_000002.11:g.48028061A>T , CM000664.1:g.48028061A>T GRCh37
NC_000002.10:g.47881565A>T NCBI36
NG_007111.1:g.22776A>T , LRG_219:g.22776A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.2642A>T (MSH6) ENSP00000406248.2:p.Glu881Val
ENST00000420813.6:c.2642A>T (MSH6) ENSP00000390382.2:p.Glu881Val
ENST00000455383.6:c.2642A>T (MSH6) ENSP00000397484.2:p.Glu881Val
ENST00000700004.2:c.2939A>T (MSH6) ENSP00000514752.2:p.Glu980Val
ENST00000699999.1:n.3023A>T (MSH6)
ENST00000700000.1:c.1606+1333A>T (MSH6) ENSP00000514749.1:n.1606+1333A>T
ENST00000700002.1:c.2945A>T (MSH6) ENSP00000514750.1:p.Glu982Val
ENST00000700003.1:c.628-2498A>T (MSH6) ENSP00000514751.1:n.628-2498A>T
ENST00000700004.1:c.2096A>T (MSH6) ENSP00000514752.1:p.Glu699Val
ENST00000234420.11:c.2939A>T (MSH6) MANE Select ENSP00000234420.5:p.Glu980Val
ENST00000540021.6:c.2549A>T (MSH6) ENSP00000446475.1:p.Glu850Val
ENST00000652107.1:c.2642A>T (MSH6) ENSP00000498629.1:p.Glu881Val
ENST00000673637.1:c.2642A>T (MSH6) ENSP00000501310.1:p.Glu881Val
ENST00000234420.9:c.2939A>T (MSH6) ENSP00000234420.4:p.Glu980Val
ENST00000405808.5:c.169+7273T>A (FBXO11) ENSP00000385127.1:n.169+7273T>A
ENST00000434234.5:c.*124+7072T>A (FBXO11) ENSP00000402692.1:n.*124+7072T>A
ENST00000445503.5:c.*2286A>T (MSH6) ENSP00000405294.1:n.*2286A>T
ENST00000538136.1:c.2033A>T (MSH6) ENSP00000438580.1:p.Glu678Val
ENST00000540021.5:c.2549A>T (MSH6) ENSP00000446475.1:p.Glu850Val
ENST00000614496.4:c.2033A>T (MSH6) ENSP00000477844.1:p.Glu678Val
ENST00000616033.4:c.2936A>T (MSH6) ENSP00000480261.1:p.Glu979Val
ENST00000622629.4:c.-158A>T (MSH6) ENSP00000482078.1:n.-158A>T
NM_000179.2:c.2939A>T , LRG_219t1:c.2939A>T (MSH6) NP_000170.1:p.Glu980Val
NM_001281492.1:c.2549A>T (MSH6) NP_001268421.1:p.Glu850Val
NM_001281493.1:c.2033A>T (MSH6) NP_001268422.1:p.Glu678Val
NM_001281494.1:c.2033A>T (MSH6) NP_001268423.1:p.Glu678Val
XM_005264271.1:c.2642A>T (MSH6) XP_005264328.1:p.Glu881Val
XM_011532798.1:c.2756A>T (MSH6) XP_011531100.1:p.Glu919Val
XM_011532799.1:c.2642A>T (MSH6) XP_011531101.1:p.Glu881Val
XM_011532800.1:c.2642A>T (MSH6) XP_011531102.1:p.Glu881Val
XM_024452819.1:c.2939A>T (MSH6) XP_024308587.1:p.Glu980Val
XM_024452820.1:c.2756A>T (MSH6) XP_024308588.1:p.Glu919Val
XM_024452821.1:c.2642A>T (MSH6) XP_024308589.1:p.Glu881Val
XM_024452822.1:c.2033A>T (MSH6) XP_024308590.1:p.Glu678Val
NM_000179.3:c.2939A>T (MSH6) MANE Select NP_000170.1:p.Glu980Val
NM_001281492.2:c.2549A>T (MSH6) NP_001268421.1:p.Glu850Val
NM_001281493.2:c.2033A>T (MSH6) NP_001268422.1:p.Glu678Val
NM_001281494.2:c.2033A>T (MSH6) NP_001268423.1:p.Glu678Val