Canonical Allele Identifier: CA426122270

Linked Data

MyVariant Identifiers: chr2:g.48033948T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806809T>C , CM000664.2:g.47806809T>C GRCh38
NC_000002.11:g.48033948T>C , CM000664.1:g.48033948T>C GRCh37
NC_000002.10:g.47887452T>C NCBI36
NG_007111.1:g.28663T>C , LRG_219:g.28663T>C
NG_008397.1:g.103867A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3735T>C (MSH6) ENSP00000406248.2:p.Thr1245=
ENST00000420813.6:c.3735T>C (MSH6) ENSP00000390382.2:p.Thr1245=
ENST00000455383.6:c.3735T>C (MSH6) ENSP00000397484.2:p.Thr1245=
ENST00000700004.2:c.3648T>C (MSH6) ENSP00000514752.2:p.Thr1216=
ENST00000699999.1:n.4706T>C (MSH6)
ENST00000700000.1:c.2466T>C (MSH6) ENSP00000514749.1:p.Thr822=
ENST00000700002.1:c.4038T>C (MSH6) ENSP00000514750.1:p.Thr1346=
ENST00000700003.1:c.1487T>C (MSH6) ENSP00000514751.1:n.1487T>C
ENST00000700004.1:c.2805T>C (MSH6) ENSP00000514752.1:p.Thr935=
ENST00000700005.1:n.3010T>C (MSH6)
ENST00000700007.1:n.2627T>C (MSH6)
ENST00000700008.1:n.2294T>C (MSH6)
ENST00000700009.1:n.2696T>C (MSH6)
ENST00000700010.1:n.1441T>C (MSH6)
ENST00000700011.1:n.3326T>C (MSH6)
ENST00000682451.1:n.3939A>G (FBXO11)
ENST00000684712.1:n.4201A>G (FBXO11)
ENST00000234420.11:c.4032T>C (MSH6) MANE Select ENSP00000234420.5:p.Thr1344=
ENST00000540021.6:c.3642T>C (MSH6) ENSP00000446475.1:p.Thr1214=
ENST00000652107.1:c.3735T>C (MSH6) ENSP00000498629.1:p.Thr1245=
ENST00000673637.1:c.3735T>C (MSH6) ENSP00000501310.1:p.Thr1245=
ENST00000234420.9:c.4032T>C (MSH6) ENSP00000234420.4:p.Thr1344=
ENST00000405808.5:c.169+1386A>G (FBXO11) ENSP00000385127.1:n.169+1386A>G
ENST00000434234.5:c.*124+1185A>G (FBXO11) ENSP00000402692.1:n.*124+1185A>G
ENST00000445503.5:c.*3379T>C (MSH6) ENSP00000405294.1:n.*3379T>C
ENST00000465204.5:n.3101A>G (FBXO11)
ENST00000538136.1:c.3126T>C (MSH6) ENSP00000438580.1:p.Thr1042=
ENST00000540021.5:c.3642T>C (MSH6) ENSP00000446475.1:p.Thr1214=
ENST00000614496.4:c.3126T>C (MSH6) ENSP00000477844.1:p.Thr1042=
ENST00000622629.4:c.933T>C (MSH6) ENSP00000482078.1:p.Thr311=
NM_000179.2:c.4032T>C , LRG_219t1:c.4032T>C (MSH6) NP_000170.1:p.Thr1344=
NM_001281492.1:c.3642T>C (MSH6) NP_001268421.1:p.Thr1214=
NM_001281493.1:c.3126T>C (MSH6) NP_001268422.1:p.Thr1042=
NM_001281494.1:c.3126T>C (MSH6) NP_001268423.1:p.Thr1042=
XM_005264271.1:c.3735T>C (MSH6) XP_005264328.1:p.Thr1245=
XM_011532798.1:c.3849T>C (MSH6) XP_011531100.1:p.Thr1283=
XM_011532799.1:c.3735T>C (MSH6) XP_011531101.1:p.Thr1245=
XM_011532800.1:c.3735T>C (MSH6) XP_011531102.1:p.Thr1245=
XM_024452819.1:c.4125T>C (MSH6) XP_024308587.1:p.Thr1375=
XM_024452820.1:c.3942T>C (MSH6) XP_024308588.1:p.Thr1314=
XM_024452821.1:c.3828T>C (MSH6) XP_024308589.1:p.Thr1276=
XM_024452822.1:c.3219T>C (MSH6) XP_024308590.1:p.Thr1073=
NM_000179.3:c.4032T>C (MSH6) MANE Select NP_000170.1:p.Thr1344=
NM_001281492.2:c.3642T>C (MSH6) NP_001268421.1:p.Thr1214=
NM_001281493.2:c.3126T>C (MSH6) NP_001268422.1:p.Thr1042=
NM_001281494.2:c.3126T>C (MSH6) NP_001268423.1:p.Thr1042=