Canonical Allele Identifier: CA425997778

Linked Data

MyVariant Identifiers: chr2:g.48033377A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806238A>C , CM000664.2:g.47806238A>C GRCh38
NC_000002.11:g.48033377A>C , CM000664.1:g.48033377A>C GRCh37
NC_000002.10:g.47886881A>C NCBI36
NG_007111.1:g.28092A>C , LRG_219:g.28092A>C
NG_008397.1:g.104438T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3384A>C (MSH6) ENSP00000406248.2:p.Ile1128=
ENST00000420813.6:c.3384A>C (MSH6) ENSP00000390382.2:p.Ile1128=
ENST00000455383.6:c.3384A>C (MSH6) ENSP00000397484.2:p.Ile1128=
ENST00000700004.2:c.3297A>C (MSH6) ENSP00000514752.2:p.Ile1099=
ENST00000699999.1:n.4355A>C (MSH6)
ENST00000700000.1:c.2115A>C (MSH6) ENSP00000514749.1:p.Ile705=
ENST00000700002.1:c.3687A>C (MSH6) ENSP00000514750.1:p.Ile1229=
ENST00000700003.1:c.1136A>C (MSH6) ENSP00000514751.1:n.1136A>C
ENST00000700004.1:c.2454A>C (MSH6) ENSP00000514752.1:p.Ile818=
ENST00000700005.1:n.2532A>C (MSH6)
ENST00000700006.1:n.4839A>C (MSH6)
ENST00000700007.1:n.2276A>C (MSH6)
ENST00000700008.1:n.1850A>C (MSH6)
ENST00000700009.1:n.2345A>C (MSH6)
ENST00000700010.1:n.1090A>C (MSH6)
ENST00000700011.1:n.2975A>C (MSH6)
ENST00000682451.1:n.4510T>G (FBXO11)
ENST00000684712.1:n.4772T>G (FBXO11)
ENST00000234420.11:c.3681A>C (MSH6) MANE Select ENSP00000234420.5:p.Ile1227=
ENST00000540021.6:c.3291A>C (MSH6) ENSP00000446475.1:p.Ile1097=
ENST00000652107.1:c.3384A>C (MSH6) ENSP00000498629.1:p.Ile1128=
ENST00000673637.1:c.3384A>C (MSH6) ENSP00000501310.1:p.Ile1128=
ENST00000234420.9:c.3681A>C (MSH6) ENSP00000234420.4:p.Ile1227=
ENST00000405808.5:c.169+1957T>G (FBXO11) ENSP00000385127.1:n.169+1957T>G
ENST00000434234.5:c.*124+1756T>G (FBXO11) ENSP00000402692.1:n.*124+1756T>G
ENST00000445503.5:c.*3028A>C (MSH6) ENSP00000405294.1:n.*3028A>C
ENST00000538136.1:c.2775A>C (MSH6) ENSP00000438580.1:p.Ile925=
ENST00000540021.5:c.3291A>C (MSH6) ENSP00000446475.1:p.Ile1097=
ENST00000614496.4:c.2775A>C (MSH6) ENSP00000477844.1:p.Ile925=
ENST00000622629.4:c.585A>C (MSH6) ENSP00000482078.1:p.Ile195=
NM_000179.2:c.3681A>C , LRG_219t1:c.3681A>C (MSH6) NP_000170.1:p.Ile1227=
NM_001281492.1:c.3291A>C (MSH6) NP_001268421.1:p.Ile1097=
NM_001281493.1:c.2775A>C (MSH6) NP_001268422.1:p.Ile925=
NM_001281494.1:c.2775A>C (MSH6) NP_001268423.1:p.Ile925=
XM_005264271.1:c.3384A>C (MSH6) XP_005264328.1:p.Ile1128=
XM_011532798.1:c.3498A>C (MSH6) XP_011531100.1:p.Ile1166=
XM_011532799.1:c.3384A>C (MSH6) XP_011531101.1:p.Ile1128=
XM_011532800.1:c.3384A>C (MSH6) XP_011531102.1:p.Ile1128=
XM_024452819.1:c.3681A>C (MSH6) XP_024308587.1:p.Ile1227=
XM_024452820.1:c.3498A>C (MSH6) XP_024308588.1:p.Ile1166=
XM_024452821.1:c.3384A>C (MSH6) XP_024308589.1:p.Ile1128=
XM_024452822.1:c.2775A>C (MSH6) XP_024308590.1:p.Ile925=
NM_000179.3:c.3681A>C (MSH6) MANE Select NP_000170.1:p.Ile1227=
NM_001281492.2:c.3291A>C (MSH6) NP_001268421.1:p.Ile1097=
NM_001281493.2:c.2775A>C (MSH6) NP_001268422.1:p.Ile925=
NM_001281494.2:c.2775A>C (MSH6) NP_001268423.1:p.Ile925=