Canonical Allele Identifier: CA425997890

Linked Data

dbSNP Id: rs2104540243
MyVariant Identifiers: chr2:g.48033398A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806259A>G , CM000664.2:g.47806259A>G GRCh38
NC_000002.11:g.48033398A>G , CM000664.1:g.48033398A>G GRCh37
NC_000002.10:g.47886902A>G NCBI36
NG_007111.1:g.28113A>G , LRG_219:g.28113A>G
NG_008397.1:g.104417T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.3405A>G (MSH6) ENSP00000406248.2:p.Glu1135=
ENST00000420813.6:c.3405A>G (MSH6) ENSP00000390382.2:p.Glu1135=
ENST00000455383.6:c.3405A>G (MSH6) ENSP00000397484.2:p.Glu1135=
ENST00000700004.2:c.3318A>G (MSH6) ENSP00000514752.2:p.Glu1106=
ENST00000699999.1:n.4376A>G (MSH6)
ENST00000700000.1:c.2136A>G (MSH6) ENSP00000514749.1:p.Glu712=
ENST00000700002.1:c.3708A>G (MSH6) ENSP00000514750.1:p.Glu1236=
ENST00000700003.1:c.1157A>G (MSH6) ENSP00000514751.1:n.1157A>G
ENST00000700004.1:c.2475A>G (MSH6) ENSP00000514752.1:p.Glu825=
ENST00000700005.1:n.2553A>G (MSH6)
ENST00000700006.1:n.4860A>G (MSH6)
ENST00000700007.1:n.2297A>G (MSH6)
ENST00000700008.1:n.1871A>G (MSH6)
ENST00000700009.1:n.2366A>G (MSH6)
ENST00000700010.1:n.1111A>G (MSH6)
ENST00000700011.1:n.2996A>G (MSH6)
ENST00000682451.1:n.4489T>C (FBXO11)
ENST00000684712.1:n.4751T>C (FBXO11)
ENST00000234420.11:c.3702A>G (MSH6) MANE Select ENSP00000234420.5:p.Glu1234=
ENST00000540021.6:c.3312A>G (MSH6) ENSP00000446475.1:p.Glu1104=
ENST00000652107.1:c.3405A>G (MSH6) ENSP00000498629.1:p.Glu1135=
ENST00000673637.1:c.3405A>G (MSH6) ENSP00000501310.1:p.Glu1135=
ENST00000234420.9:c.3702A>G (MSH6) ENSP00000234420.4:p.Glu1234=
ENST00000405808.5:c.169+1936T>C (FBXO11) ENSP00000385127.1:n.169+1936T>C
ENST00000434234.5:c.*124+1735T>C (FBXO11) ENSP00000402692.1:n.*124+1735T>C
ENST00000445503.5:c.*3049A>G (MSH6) ENSP00000405294.1:n.*3049A>G
ENST00000538136.1:c.2796A>G (MSH6) ENSP00000438580.1:p.Glu932=
ENST00000540021.5:c.3312A>G (MSH6) ENSP00000446475.1:p.Glu1104=
ENST00000614496.4:c.2796A>G (MSH6) ENSP00000477844.1:p.Glu932=
ENST00000622629.4:c.606A>G (MSH6) ENSP00000482078.1:p.Glu202=
NM_000179.2:c.3702A>G , LRG_219t1:c.3702A>G (MSH6) NP_000170.1:p.Glu1234=
NM_001281492.1:c.3312A>G (MSH6) NP_001268421.1:p.Glu1104=
NM_001281493.1:c.2796A>G (MSH6) NP_001268422.1:p.Glu932=
NM_001281494.1:c.2796A>G (MSH6) NP_001268423.1:p.Glu932=
XM_005264271.1:c.3405A>G (MSH6) XP_005264328.1:p.Glu1135=
XM_011532798.1:c.3519A>G (MSH6) XP_011531100.1:p.Glu1173=
XM_011532799.1:c.3405A>G (MSH6) XP_011531101.1:p.Glu1135=
XM_011532800.1:c.3405A>G (MSH6) XP_011531102.1:p.Glu1135=
XM_024452819.1:c.3702A>G (MSH6) XP_024308587.1:p.Glu1234=
XM_024452820.1:c.3519A>G (MSH6) XP_024308588.1:p.Glu1173=
XM_024452821.1:c.3405A>G (MSH6) XP_024308589.1:p.Glu1135=
XM_024452822.1:c.2796A>G (MSH6) XP_024308590.1:p.Glu932=
NM_000179.3:c.3702A>G (MSH6) MANE Select NP_000170.1:p.Glu1234=
NM_001281492.2:c.3312A>G (MSH6) NP_001268421.1:p.Glu1104=
NM_001281493.2:c.2796A>G (MSH6) NP_001268422.1:p.Glu932=
NM_001281494.2:c.2796A>G (MSH6) NP_001268423.1:p.Glu932=