Canonical Allele Identifier: CA426122258

Linked Data

dbSNP Id: rs2104580907
MyVariant Identifiers: chr2:g.48033933T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806794T>A , CM000664.2:g.47806794T>A GRCh38
NC_000002.11:g.48033933T>A , CM000664.1:g.48033933T>A GRCh37
NC_000002.10:g.47887437T>A NCBI36
NG_007111.1:g.28648T>A , LRG_219:g.28648T>A
NG_008397.1:g.103882A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3720T>A (MSH6) ENSP00000406248.2:p.Ala1240=
ENST00000420813.6:c.3720T>A (MSH6) ENSP00000390382.2:p.Ala1240=
ENST00000455383.6:c.3720T>A (MSH6) ENSP00000397484.2:p.Ala1240=
ENST00000700004.2:c.3633T>A (MSH6) ENSP00000514752.2:p.Ala1211=
ENST00000699999.1:n.4691T>A (MSH6)
ENST00000700000.1:c.2451T>A (MSH6) ENSP00000514749.1:p.Ala817=
ENST00000700002.1:c.4023T>A (MSH6) ENSP00000514750.1:p.Ala1341=
ENST00000700003.1:c.1472T>A (MSH6) ENSP00000514751.1:n.1472T>A
ENST00000700004.1:c.2790T>A (MSH6) ENSP00000514752.1:p.Ala930=
ENST00000700005.1:n.2995T>A (MSH6)
ENST00000700007.1:n.2612T>A (MSH6)
ENST00000700008.1:n.2279T>A (MSH6)
ENST00000700009.1:n.2681T>A (MSH6)
ENST00000700010.1:n.1426T>A (MSH6)
ENST00000700011.1:n.3311T>A (MSH6)
ENST00000682451.1:n.3954A>T (FBXO11)
ENST00000684712.1:n.4216A>T (FBXO11)
ENST00000234420.11:c.4017T>A (MSH6) MANE Select ENSP00000234420.5:p.Ala1339=
ENST00000540021.6:c.3627T>A (MSH6) ENSP00000446475.1:p.Ala1209=
ENST00000652107.1:c.3720T>A (MSH6) ENSP00000498629.1:p.Ala1240=
ENST00000673637.1:c.3720T>A (MSH6) ENSP00000501310.1:p.Ala1240=
ENST00000234420.9:c.4017T>A (MSH6) ENSP00000234420.4:p.Ala1339=
ENST00000405808.5:c.169+1401A>T (FBXO11) ENSP00000385127.1:n.169+1401A>T
ENST00000434234.5:c.*124+1200A>T (FBXO11) ENSP00000402692.1:n.*124+1200A>T
ENST00000445503.5:c.*3364T>A (MSH6) ENSP00000405294.1:n.*3364T>A
ENST00000465204.5:n.3116A>T (FBXO11)
ENST00000538136.1:c.3111T>A (MSH6) ENSP00000438580.1:p.Ala1037=
ENST00000540021.5:c.3627T>A (MSH6) ENSP00000446475.1:p.Ala1209=
ENST00000614496.4:c.3111T>A (MSH6) ENSP00000477844.1:p.Ala1037=
ENST00000622629.4:c.918T>A (MSH6) ENSP00000482078.1:p.Ala306=
NM_000179.2:c.4017T>A , LRG_219t1:c.4017T>A (MSH6) NP_000170.1:p.Ala1339=
NM_001281492.1:c.3627T>A (MSH6) NP_001268421.1:p.Ala1209=
NM_001281493.1:c.3111T>A (MSH6) NP_001268422.1:p.Ala1037=
NM_001281494.1:c.3111T>A (MSH6) NP_001268423.1:p.Ala1037=
XM_005264271.1:c.3720T>A (MSH6) XP_005264328.1:p.Ala1240=
XM_011532798.1:c.3834T>A (MSH6) XP_011531100.1:p.Ala1278=
XM_011532799.1:c.3720T>A (MSH6) XP_011531101.1:p.Ala1240=
XM_011532800.1:c.3720T>A (MSH6) XP_011531102.1:p.Ala1240=
XM_024452819.1:c.4110T>A (MSH6) XP_024308587.1:p.Ala1370=
XM_024452820.1:c.3927T>A (MSH6) XP_024308588.1:p.Ala1309=
XM_024452821.1:c.3813T>A (MSH6) XP_024308589.1:p.Ala1271=
XM_024452822.1:c.3204T>A (MSH6) XP_024308590.1:p.Ala1068=
NM_000179.3:c.4017T>A (MSH6) MANE Select NP_000170.1:p.Ala1339=
NM_001281492.2:c.3627T>A (MSH6) NP_001268421.1:p.Ala1209=
NM_001281493.2:c.3111T>A (MSH6) NP_001268422.1:p.Ala1037=
NM_001281494.2:c.3111T>A (MSH6) NP_001268423.1:p.Ala1037=