Canonical Allele Identifier: CA2658970689

Linked Data

gnomAD v4: 2-47806926-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806926T>A , CM000664.2:g.47806926T>A GRCh38
NC_000002.11:g.48034065T>A , CM000664.1:g.48034065T>A GRCh37
NC_000002.10:g.47887569T>A NCBI36
NG_007111.1:g.28780T>A , LRG_219:g.28780T>A
NG_008397.1:g.103750A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.*66T>A (MSH6) ENSP00000406248.2:n.*66T>A
ENST00000420813.6:c.*66T>A (MSH6) ENSP00000390382.2:n.*66T>A
ENST00000455383.6:c.*66T>A (MSH6) ENSP00000397484.2:n.*66T>A
ENST00000700004.2:c.*66T>A (MSH6) ENSP00000514752.2:n.*66T>A
ENST00000700002.1:c.*66T>A (MSH6) ENSP00000514750.1:n.*66T>A
ENST00000700004.1:c.2922T>A (MSH6) ENSP00000514752.1:n.2922T>A
ENST00000700007.1:n.2744T>A (MSH6)
ENST00000682451.1:n.3822A>T (FBXO11)
ENST00000684712.1:n.4084A>T (FBXO11)
ENST00000234420.11:c.*66T>A (MSH6) MANE Select ENSP00000234420.5:n.*66T>A
ENST00000403359.8:c.*1192A>T (FBXO11) MANE Select ENSP00000384823.4:n.*1192A>T
ENST00000540021.6:c.*66T>A (MSH6) ENSP00000446475.1:n.*66T>A
ENST00000652107.1:c.*66T>A (MSH6) ENSP00000498629.1:n.*66T>A
ENST00000234420.9:c.*66T>A (MSH6) ENSP00000234420.4:n.*66T>A
ENST00000402508.5:c.*1192A>T (FBXO11) ENSP00000385398.1:n.*1192A>T
ENST00000403359.7:c.*1192A>T (FBXO11) ENSP00000384823.3:n.*1192A>T
ENST00000405808.5:c.169+1269A>T (FBXO11) ENSP00000385127.1:n.169+1269A>T
ENST00000434234.5:c.*124+1068A>T (FBXO11) ENSP00000402692.1:n.*124+1068A>T
ENST00000445503.5:c.*3496T>A (MSH6) ENSP00000405294.1:n.*3496T>A
ENST00000465204.5:n.2984A>T (FBXO11)
ENST00000538136.1:c.*66T>A (MSH6) ENSP00000438580.1:n.*66T>A
ENST00000540021.5:c.*66T>A (MSH6) ENSP00000446475.1:n.*66T>A
ENST00000614496.4:c.*66T>A (MSH6) ENSP00000477844.1:n.*66T>A
ENST00000622629.4:c.*66T>A (MSH6) ENSP00000482078.1:n.*66T>A
NM_000179.2:c.*66T>A , LRG_219t1:c.*66T>A (MSH6) NP_000170.1:n.*66T>A
NM_001190274.1:c.*1192A>T (FBXO11) NP_001177203.1:n.*1192A>T
NM_001281492.1:c.*66T>A (MSH6) NP_001268421.1:n.*66T>A
NM_001281493.1:c.*66T>A (MSH6) NP_001268422.1:n.*66T>A
NM_001281494.1:c.*66T>A (MSH6) NP_001268423.1:n.*66T>A
NM_025133.4:c.*1192A>T (FBXO11) NP_079409.3:n.*1192A>T
XM_005264271.1:c.*66T>A (MSH6) XP_005264328.1:n.*66T>A
XM_005264572.3:c.*1192A>T (FBXO11) XP_005264629.1:n.*1192A>T
XM_005264573.3:c.*1192A>T (FBXO11) XP_005264630.1:n.*1192A>T
XM_011532798.1:c.*66T>A (MSH6) XP_011531100.1:n.*66T>A
XM_011532799.1:c.*66T>A (MSH6) XP_011531101.1:n.*66T>A
XM_011532800.1:c.*66T>A (MSH6) XP_011531102.1:n.*66T>A
XM_005264572.5:c.*1192A>T (FBXO11) XP_005264629.1:n.*1192A>T
XM_005264573.5:c.*1192A>T (FBXO11) XP_005264630.1:n.*1192A>T
XM_017005015.1:c.*1192A>T (FBXO11) XP_016860504.1:n.*1192A>T
XM_017005016.2:c.*1192A>T (FBXO11) XP_016860505.1:n.*1192A>T
XM_017005017.1:c.*1192A>T (FBXO11) XP_016860506.1:n.*1192A>T
XM_024452819.1:c.*66T>A (MSH6) XP_024308587.1:n.*66T>A
XM_024452820.1:c.*66T>A (MSH6) XP_024308588.1:n.*66T>A
XM_024452821.1:c.*66T>A (MSH6) XP_024308589.1:n.*66T>A
XM_024452822.1:c.*66T>A (MSH6) XP_024308590.1:n.*66T>A
NM_000179.3:c.*66T>A (MSH6) MANE Select NP_000170.1:n.*66T>A
NM_001190274.2:c.*1192A>T (FBXO11) MANE Select NP_001177203.1:n.*1192A>T
NM_001374325.1:c.*1192A>T (FBXO11) NP_001361254.1:n.*1192A>T
NM_001281492.2:c.*66T>A (MSH6) NP_001268421.1:n.*66T>A
NM_001281493.2:c.*66T>A (MSH6) NP_001268422.1:n.*66T>A
NM_001281494.2:c.*66T>A (MSH6) NP_001268423.1:n.*66T>A