Canonical Allele Identifier: CA346740768

Linked Data

dbSNP Id: rs2104307497

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798920A>G , CM000664.2:g.47798920A>G GRCh38
NC_000002.11:g.48026059A>G , CM000664.1:g.48026059A>G GRCh37
NC_000002.10:g.47879563A>G NCBI36
NG_007111.1:g.20774A>G , LRG_219:g.20774A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.640A>G (MSH6) ENSP00000406248.2:p.Lys214Glu
ENST00000420813.6:c.640A>G (MSH6) ENSP00000390382.2:p.Lys214Glu
ENST00000455383.6:c.640A>G (MSH6) ENSP00000397484.2:p.Lys214Glu
ENST00000700004.2:c.937A>G (MSH6) ENSP00000514752.2:p.Lys313Glu
ENST00000699999.1:n.1021A>G (MSH6)
ENST00000700000.1:c.937A>G (MSH6) ENSP00000514749.1:p.Lys313Glu
ENST00000700002.1:c.943A>G (MSH6) ENSP00000514750.1:p.Lys315Glu
ENST00000700003.1:c.627+2857A>G (MSH6) ENSP00000514751.1:n.627+2857A>G
ENST00000700004.1:c.94A>G (MSH6) ENSP00000514752.1:p.Lys32Glu
ENST00000234420.11:c.937A>G (MSH6) MANE Select ENSP00000234420.5:p.Lys313Glu
ENST00000540021.6:c.547A>G (MSH6) ENSP00000446475.1:p.Lys183Glu
ENST00000652107.1:c.640A>G (MSH6) ENSP00000498629.1:p.Lys214Glu
ENST00000673637.1:c.640A>G (MSH6) ENSP00000501310.1:p.Lys214Glu
ENST00000234420.9:c.937A>G (MSH6) ENSP00000234420.4:p.Lys313Glu
ENST00000405808.5:c.169+9275T>C (FBXO11) ENSP00000385127.1:n.169+9275T>C
ENST00000434234.5:c.*124+9074T>C (FBXO11) ENSP00000402692.1:n.*124+9074T>C
ENST00000445503.5:c.*284A>G (MSH6) ENSP00000405294.1:n.*284A>G
ENST00000456246.1:c.*425A>G (MSH6) ENSP00000410570.1:n.*425A>G
ENST00000538136.1:c.31A>G (MSH6) ENSP00000438580.1:p.Lys11Glu
ENST00000540021.5:c.547A>G (MSH6) ENSP00000446475.1:p.Lys183Glu
ENST00000614496.4:c.31A>G (MSH6) ENSP00000477844.1:p.Lys11Glu
ENST00000616033.4:c.934A>G (MSH6) ENSP00000480261.1:p.Lys312Glu
ENST00000622629.4:c.-2160A>G (MSH6) ENSP00000482078.1:n.-2160A>G
NM_000179.2:c.937A>G , LRG_219t1:c.937A>G (MSH6) NP_000170.1:p.Lys313Glu
NM_001281492.1:c.547A>G (MSH6) NP_001268421.1:p.Lys183Glu
NM_001281493.1:c.31A>G (MSH6) NP_001268422.1:p.Lys11Glu
NM_001281494.1:c.31A>G (MSH6) NP_001268423.1:p.Lys11Glu
XM_005264271.1:c.640A>G (MSH6) XP_005264328.1:p.Lys214Glu
XM_011532798.1:c.754A>G (MSH6) XP_011531100.1:p.Lys252Glu
XM_011532799.1:c.640A>G (MSH6) XP_011531101.1:p.Lys214Glu
XM_011532800.1:c.640A>G (MSH6) XP_011531102.1:p.Lys214Glu
XM_024452819.1:c.937A>G (MSH6) XP_024308587.1:p.Lys313Glu
XM_024452820.1:c.754A>G (MSH6) XP_024308588.1:p.Lys252Glu
XM_024452821.1:c.640A>G (MSH6) XP_024308589.1:p.Lys214Glu
XM_024452822.1:c.31A>G (MSH6) XP_024308590.1:p.Lys11Glu
NM_000179.3:c.937A>G (MSH6) MANE Select NP_000170.1:p.Lys313Glu
NM_001281492.2:c.547A>G (MSH6) NP_001268421.1:p.Lys183Glu
NM_001281493.2:c.31A>G (MSH6) NP_001268422.1:p.Lys11Glu
NM_001281494.2:c.31A>G (MSH6) NP_001268423.1:p.Lys11Glu