Canonical Allele Identifier: CA426120773

Linked Data

MyVariant Identifiers: chr2:g.48025899T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47798760T>A , CM000664.2:g.47798760T>A GRCh38
NC_000002.11:g.48025899T>A , CM000664.1:g.48025899T>A GRCh37
NC_000002.10:g.47879403T>A NCBI36
NG_007111.1:g.20614T>A , LRG_219:g.20614T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.480T>A (MSH6) ENSP00000406248.2:p.Gly160=
ENST00000420813.6:c.480T>A (MSH6) ENSP00000390382.2:p.Gly160=
ENST00000455383.6:c.480T>A (MSH6) ENSP00000397484.2:p.Gly160=
ENST00000700004.2:c.777T>A (MSH6) ENSP00000514752.2:p.Gly259=
ENST00000699999.1:n.861T>A (MSH6)
ENST00000700000.1:c.777T>A (MSH6) ENSP00000514749.1:p.Gly259=
ENST00000700002.1:c.783T>A (MSH6) ENSP00000514750.1:p.Gly261=
ENST00000700003.1:c.627+2697T>A (MSH6) ENSP00000514751.1:n.627+2697T>A
ENST00000234420.11:c.777T>A (MSH6) MANE Select ENSP00000234420.5:p.Gly259=
ENST00000540021.6:c.387T>A (MSH6) ENSP00000446475.1:p.Gly129=
ENST00000652107.1:c.480T>A (MSH6) ENSP00000498629.1:p.Gly160=
ENST00000673637.1:c.480T>A (MSH6) ENSP00000501310.1:p.Gly160=
ENST00000673922.1:n.499T>A (MSH6)
ENST00000234420.9:c.777T>A (MSH6) ENSP00000234420.4:p.Gly259=
ENST00000405808.5:c.170-9320A>T (FBXO11) ENSP00000385127.1:n.170-9320A>T
ENST00000434234.5:c.*124+9234A>T (FBXO11) ENSP00000402692.1:n.*124+9234A>T
ENST00000445503.5:c.*124T>A (MSH6) ENSP00000405294.1:n.*124T>A
ENST00000456246.1:c.*265T>A (MSH6) ENSP00000410570.1:n.*265T>A
ENST00000538136.1:c.-130T>A (MSH6) ENSP00000438580.1:n.-130T>A
ENST00000540021.5:c.387T>A (MSH6) ENSP00000446475.1:p.Gly129=
ENST00000614496.4:c.-130T>A (MSH6) ENSP00000477844.1:n.-130T>A
ENST00000616033.4:c.774T>A (MSH6) ENSP00000480261.1:p.Gly258=
ENST00000622629.4:c.-2320T>A (MSH6) ENSP00000482078.1:n.-2320T>A
NM_000179.2:c.777T>A , LRG_219t1:c.777T>A (MSH6) NP_000170.1:p.Gly259=
NM_001281492.1:c.387T>A (MSH6) NP_001268421.1:p.Gly129=
NM_001281493.1:c.-130T>A (MSH6) NP_001268422.1:n.-130T>A
NM_001281494.1:c.-130T>A (MSH6) NP_001268423.1:n.-130T>A
XM_005264271.1:c.480T>A (MSH6) XP_005264328.1:p.Gly160=
XM_011532798.1:c.594T>A (MSH6) XP_011531100.1:p.Gly198=
XM_011532799.1:c.480T>A (MSH6) XP_011531101.1:p.Gly160=
XM_011532800.1:c.480T>A (MSH6) XP_011531102.1:p.Gly160=
XM_024452819.1:c.777T>A (MSH6) XP_024308587.1:p.Gly259=
XM_024452820.1:c.594T>A (MSH6) XP_024308588.1:p.Gly198=
XM_024452821.1:c.480T>A (MSH6) XP_024308589.1:p.Gly160=
XM_024452822.1:c.-130T>A (MSH6) XP_024308590.1:n.-130T>A
NM_000179.3:c.777T>A (MSH6) MANE Select NP_000170.1:p.Gly259=
NM_001281492.2:c.387T>A (MSH6) NP_001268421.1:p.Gly129=
NM_001281493.2:c.-130T>A (MSH6) NP_001268422.1:n.-130T>A
NM_001281494.2:c.-130T>A (MSH6) NP_001268423.1:n.-130T>A