Canonical Allele Identifier: CA425992558

Linked Data

MyVariant Identifiers: chr2:g.48023043A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47795904A>T , CM000664.2:g.47795904A>T GRCh38
NC_000002.11:g.48023043A>T , CM000664.1:g.48023043A>T GRCh37
NC_000002.10:g.47876547A>T NCBI36
NG_007111.1:g.17758A>T , LRG_219:g.17758A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000411819.2:c.171A>T (MSH6) ENSP00000406248.2:p.Ser57=
ENST00000420813.6:c.171A>T (MSH6) ENSP00000390382.2:p.Ser57=
ENST00000455383.6:c.171A>T (MSH6) ENSP00000397484.2:p.Ser57=
ENST00000700004.2:c.468A>T (MSH6) ENSP00000514752.2:p.Ser156=
ENST00000699999.1:n.552A>T (MSH6)
ENST00000700000.1:c.468A>T (MSH6) ENSP00000514749.1:p.Ser156=
ENST00000700001.1:n.540A>T (MSH6)
ENST00000700002.1:c.468A>T (MSH6) ENSP00000514750.1:p.Ser156=
ENST00000700003.1:c.468A>T (MSH6) ENSP00000514751.1:p.Ser156=
ENST00000234420.11:c.468A>T (MSH6) MANE Select ENSP00000234420.5:p.Ser156=
ENST00000540021.6:c.238-2707A>T (MSH6) ENSP00000446475.1:n.238-2707A>T
ENST00000652107.1:c.171A>T (MSH6) ENSP00000498629.1:p.Ser57=
ENST00000673637.1:c.171A>T (MSH6) ENSP00000501310.1:p.Ser57=
ENST00000673922.1:n.350-2707A>T (MSH6)
ENST00000234420.9:c.468A>T (MSH6) ENSP00000234420.4:p.Ser156=
ENST00000405808.5:c.170-6464T>A (FBXO11) ENSP00000385127.1:n.170-6464T>A
ENST00000411819.1:c.171A>T (MSH6) ENSP00000406248.1:p.Ser57=
ENST00000420813.5:c.171A>T (MSH6) ENSP00000390382.1:p.Ser57=
ENST00000434234.5:c.*125-6464T>A (FBXO11) ENSP00000402692.1:n.*125-6464T>A
ENST00000445503.5:c.458-2707A>T (MSH6) ENSP00000405294.1:n.458-2707A>T
ENST00000455383.5:c.171A>T (MSH6) ENSP00000397484.1:p.Ser57=
ENST00000456246.1:c.271A>T (MSH6) ENSP00000410570.1:p.Lys91Ter
ENST00000538136.1:c.-435A>T (MSH6) ENSP00000438580.1:n.-435A>T
ENST00000540021.5:c.238-2707A>T (MSH6) ENSP00000446475.1:n.238-2707A>T
ENST00000614496.4:c.-279-2707A>T (MSH6) ENSP00000477844.1:n.-279-2707A>T
ENST00000616033.4:c.465A>T (MSH6) ENSP00000480261.1:p.Ser155=
ENST00000622629.4:c.-2629A>T (MSH6) ENSP00000482078.1:n.-2629A>T
NM_000179.2:c.468A>T , LRG_219t1:c.468A>T (MSH6) NP_000170.1:p.Ser156=
NM_001281492.1:c.238-2707A>T (MSH6) NP_001268421.1:n.238-2707A>T
NM_001281493.1:c.-279-2707A>T (MSH6) NP_001268422.1:n.-279-2707A>T
NM_001281494.1:c.-435A>T (MSH6) NP_001268423.1:n.-435A>T
XM_005264271.1:c.171A>T (MSH6) XP_005264328.1:p.Ser57=
XM_011532798.1:c.285A>T (MSH6) XP_011531100.1:p.Ser95=
XM_011532799.1:c.171A>T (MSH6) XP_011531101.1:p.Ser57=
XM_011532800.1:c.171A>T (MSH6) XP_011531102.1:p.Ser57=
XM_024452819.1:c.468A>T (MSH6) XP_024308587.1:p.Ser156=
XM_024452820.1:c.285A>T (MSH6) XP_024308588.1:p.Ser95=
XM_024452821.1:c.171A>T (MSH6) XP_024308589.1:p.Ser57=
XM_024452822.1:c.-279-2707A>T (MSH6) XP_024308590.1:n.-279-2707A>T
NM_000179.3:c.468A>T (MSH6) MANE Select NP_000170.1:p.Ser156=
NM_001281492.2:c.238-2707A>T (MSH6) NP_001268421.1:n.238-2707A>T
NM_001281493.2:c.-279-2707A>T (MSH6) NP_001268422.1:n.-279-2707A>T
NM_001281494.2:c.-435A>T (MSH6) NP_001268423.1:n.-435A>T