Canonical Allele Identifier: CA426122185

Linked Data

MyVariant Identifiers: chr2:g.48033728T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806589T>C , CM000664.2:g.47806589T>C GRCh38
NC_000002.11:g.48033728T>C , CM000664.1:g.48033728T>C GRCh37
NC_000002.10:g.47887232T>C NCBI36
NG_007111.1:g.28443T>C , LRG_219:g.28443T>C
NG_008397.1:g.104087A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3642T>C (MSH6) ENSP00000406248.2:p.Ile1214=
ENST00000420813.6:c.3642T>C (MSH6) ENSP00000390382.2:p.Ile1214=
ENST00000455383.6:c.3642T>C (MSH6) ENSP00000397484.2:p.Ile1214=
ENST00000700004.2:c.3555T>C (MSH6) ENSP00000514752.2:p.Ile1185=
ENST00000699999.1:n.4613T>C (MSH6)
ENST00000700000.1:c.2373T>C (MSH6) ENSP00000514749.1:p.Ile791=
ENST00000700002.1:c.3945T>C (MSH6) ENSP00000514750.1:p.Ile1315=
ENST00000700003.1:c.1394T>C (MSH6) ENSP00000514751.1:n.1394T>C
ENST00000700004.1:c.2712T>C (MSH6) ENSP00000514752.1:p.Ile904=
ENST00000700005.1:n.2790T>C (MSH6)
ENST00000700006.1:n.5097T>C (MSH6)
ENST00000700007.1:n.2534T>C (MSH6)
ENST00000700008.1:n.2201T>C (MSH6)
ENST00000700009.1:n.2603T>C (MSH6)
ENST00000700010.1:n.1348T>C (MSH6)
ENST00000700011.1:n.3233T>C (MSH6)
ENST00000682451.1:n.4159A>G (FBXO11)
ENST00000684712.1:n.4421A>G (FBXO11)
ENST00000234420.11:c.3939T>C (MSH6) MANE Select ENSP00000234420.5:p.Ile1313=
ENST00000540021.6:c.3549T>C (MSH6) ENSP00000446475.1:p.Ile1183=
ENST00000652107.1:c.3642T>C (MSH6) ENSP00000498629.1:p.Ile1214=
ENST00000673637.1:c.3642T>C (MSH6) ENSP00000501310.1:p.Ile1214=
ENST00000234420.9:c.3939T>C (MSH6) ENSP00000234420.4:p.Ile1313=
ENST00000405808.5:c.169+1606A>G (FBXO11) ENSP00000385127.1:n.169+1606A>G
ENST00000434234.5:c.*124+1405A>G (FBXO11) ENSP00000402692.1:n.*124+1405A>G
ENST00000445503.5:c.*3286T>C (MSH6) ENSP00000405294.1:n.*3286T>C
ENST00000538136.1:c.3033T>C (MSH6) ENSP00000438580.1:p.Ile1011=
ENST00000540021.5:c.3549T>C (MSH6) ENSP00000446475.1:p.Ile1183=
ENST00000614496.4:c.3033T>C (MSH6) ENSP00000477844.1:p.Ile1011=
ENST00000622629.4:c.840T>C (MSH6) ENSP00000482078.1:p.Ile280=
NM_000179.2:c.3939T>C , LRG_219t1:c.3939T>C (MSH6) NP_000170.1:p.Ile1313=
NM_001281492.1:c.3549T>C (MSH6) NP_001268421.1:p.Ile1183=
NM_001281493.1:c.3033T>C (MSH6) NP_001268422.1:p.Ile1011=
NM_001281494.1:c.3033T>C (MSH6) NP_001268423.1:p.Ile1011=
XM_005264271.1:c.3642T>C (MSH6) XP_005264328.1:p.Ile1214=
XM_011532798.1:c.3756T>C (MSH6) XP_011531100.1:p.Ile1252=
XM_011532799.1:c.3642T>C (MSH6) XP_011531101.1:p.Ile1214=
XM_011532800.1:c.3642T>C (MSH6) XP_011531102.1:p.Ile1214=
XM_024452819.1:c.4032T>C (MSH6) XP_024308587.1:p.Ile1344=
XM_024452820.1:c.3849T>C (MSH6) XP_024308588.1:p.Ile1283=
XM_024452821.1:c.3735T>C (MSH6) XP_024308589.1:p.Ile1245=
XM_024452822.1:c.3126T>C (MSH6) XP_024308590.1:p.Ile1042=
NM_000179.3:c.3939T>C (MSH6) MANE Select NP_000170.1:p.Ile1313=
NM_001281492.2:c.3549T>C (MSH6) NP_001268421.1:p.Ile1183=
NM_001281493.2:c.3033T>C (MSH6) NP_001268422.1:p.Ile1011=
NM_001281494.2:c.3033T>C (MSH6) NP_001268423.1:p.Ile1011=