Canonical Allele Identifier: CA426122104

Linked Data

dbSNP Id: rs1572746044
MyVariant Identifiers: chr2:g.48033593A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806454A>T , CM000664.2:g.47806454A>T GRCh38
NC_000002.11:g.48033593A>T , CM000664.1:g.48033593A>T GRCh37
NC_000002.10:g.47887097A>T NCBI36
NG_007111.1:g.28308A>T , LRG_219:g.28308A>T
NG_008397.1:g.104222T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3507A>T (MSH6) ENSP00000406248.2:p.Ala1169=
ENST00000420813.6:c.3507A>T (MSH6) ENSP00000390382.2:p.Ala1169=
ENST00000455383.6:c.3507A>T (MSH6) ENSP00000397484.2:p.Ala1169=
ENST00000700004.2:c.3420A>T (MSH6) ENSP00000514752.2:p.Ala1140=
ENST00000699999.1:n.4478A>T (MSH6)
ENST00000700000.1:c.2238A>T (MSH6) ENSP00000514749.1:p.Ala746=
ENST00000700002.1:c.3810A>T (MSH6) ENSP00000514750.1:p.Ala1270=
ENST00000700003.1:c.1259A>T (MSH6) ENSP00000514751.1:n.1259A>T
ENST00000700004.1:c.2577A>T (MSH6) ENSP00000514752.1:p.Ala859=
ENST00000700005.1:n.2655A>T (MSH6)
ENST00000700006.1:n.4962A>T (MSH6)
ENST00000700007.1:n.2399A>T (MSH6)
ENST00000700008.1:n.2066A>T (MSH6)
ENST00000700009.1:n.2468A>T (MSH6)
ENST00000700010.1:n.1213A>T (MSH6)
ENST00000700011.1:n.3098A>T (MSH6)
ENST00000682451.1:n.4294T>A (FBXO11)
ENST00000684712.1:n.4556T>A (FBXO11)
ENST00000234420.11:c.3804A>T (MSH6) MANE Select ENSP00000234420.5:p.Ala1268=
ENST00000540021.6:c.3414A>T (MSH6) ENSP00000446475.1:p.Ala1138=
ENST00000652107.1:c.3507A>T (MSH6) ENSP00000498629.1:p.Ala1169=
ENST00000673637.1:c.3507A>T (MSH6) ENSP00000501310.1:p.Ala1169=
ENST00000234420.9:c.3804A>T (MSH6) ENSP00000234420.4:p.Ala1268=
ENST00000405808.5:c.169+1741T>A (FBXO11) ENSP00000385127.1:n.169+1741T>A
ENST00000434234.5:c.*124+1540T>A (FBXO11) ENSP00000402692.1:n.*124+1540T>A
ENST00000445503.5:c.*3151A>T (MSH6) ENSP00000405294.1:n.*3151A>T
ENST00000538136.1:c.2898A>T (MSH6) ENSP00000438580.1:p.Ala966=
ENST00000540021.5:c.3414A>T (MSH6) ENSP00000446475.1:p.Ala1138=
ENST00000614496.4:c.2898A>T (MSH6) ENSP00000477844.1:p.Ala966=
ENST00000622629.4:c.705A>T (MSH6) ENSP00000482078.1:p.Ala235=
NM_000179.2:c.3804A>T , LRG_219t1:c.3804A>T (MSH6) NP_000170.1:p.Ala1268=
NM_001281492.1:c.3414A>T (MSH6) NP_001268421.1:p.Ala1138=
NM_001281493.1:c.2898A>T (MSH6) NP_001268422.1:p.Ala966=
NM_001281494.1:c.2898A>T (MSH6) NP_001268423.1:p.Ala966=
XM_005264271.1:c.3507A>T (MSH6) XP_005264328.1:p.Ala1169=
XM_011532798.1:c.3621A>T (MSH6) XP_011531100.1:p.Ala1207=
XM_011532799.1:c.3507A>T (MSH6) XP_011531101.1:p.Ala1169=
XM_011532800.1:c.3507A>T (MSH6) XP_011531102.1:p.Ala1169=
XM_024452819.1:c.3897A>T (MSH6) XP_024308587.1:p.Ala1299=
XM_024452820.1:c.3714A>T (MSH6) XP_024308588.1:p.Ala1238=
XM_024452821.1:c.3600A>T (MSH6) XP_024308589.1:p.Ala1200=
XM_024452822.1:c.2991A>T (MSH6) XP_024308590.1:p.Ala997=
NM_000179.3:c.3804A>T (MSH6) MANE Select NP_000170.1:p.Ala1268=
NM_001281492.2:c.3414A>T (MSH6) NP_001268421.1:p.Ala1138=
NM_001281493.2:c.2898A>T (MSH6) NP_001268422.1:p.Ala966=
NM_001281494.2:c.2898A>T (MSH6) NP_001268423.1:p.Ala966=