Canonical Allele Identifier: CA426122155

Linked Data

MyVariant Identifiers: chr2:g.48033704T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47806565T>G , CM000664.2:g.47806565T>G GRCh38
NC_000002.11:g.48033704T>G , CM000664.1:g.48033704T>G GRCh37
NC_000002.10:g.47887208T>G NCBI36
NG_007111.1:g.28419T>G , LRG_219:g.28419T>G
NG_008397.1:g.104111A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3618T>G (MSH6) ENSP00000406248.2:p.Leu1206=
ENST00000420813.6:c.3618T>G (MSH6) ENSP00000390382.2:p.Leu1206=
ENST00000455383.6:c.3618T>G (MSH6) ENSP00000397484.2:p.Leu1206=
ENST00000700004.2:c.3531T>G (MSH6) ENSP00000514752.2:p.Leu1177=
ENST00000699999.1:n.4589T>G (MSH6)
ENST00000700000.1:c.2349T>G (MSH6) ENSP00000514749.1:p.Leu783=
ENST00000700002.1:c.3921T>G (MSH6) ENSP00000514750.1:p.Leu1307=
ENST00000700003.1:c.1370T>G (MSH6) ENSP00000514751.1:n.1370T>G
ENST00000700004.1:c.2688T>G (MSH6) ENSP00000514752.1:p.Leu896=
ENST00000700005.1:n.2766T>G (MSH6)
ENST00000700006.1:n.5073T>G (MSH6)
ENST00000700007.1:n.2510T>G (MSH6)
ENST00000700008.1:n.2177T>G (MSH6)
ENST00000700009.1:n.2579T>G (MSH6)
ENST00000700010.1:n.1324T>G (MSH6)
ENST00000700011.1:n.3209T>G (MSH6)
ENST00000682451.1:n.4183A>C (FBXO11)
ENST00000684712.1:n.4445A>C (FBXO11)
ENST00000234420.11:c.3915T>G (MSH6) MANE Select ENSP00000234420.5:p.Leu1305=
ENST00000540021.6:c.3525T>G (MSH6) ENSP00000446475.1:p.Leu1175=
ENST00000652107.1:c.3618T>G (MSH6) ENSP00000498629.1:p.Leu1206=
ENST00000673637.1:c.3618T>G (MSH6) ENSP00000501310.1:p.Leu1206=
ENST00000234420.9:c.3915T>G (MSH6) ENSP00000234420.4:p.Leu1305=
ENST00000405808.5:c.169+1630A>C (FBXO11) ENSP00000385127.1:n.169+1630A>C
ENST00000434234.5:c.*124+1429A>C (FBXO11) ENSP00000402692.1:n.*124+1429A>C
ENST00000445503.5:c.*3262T>G (MSH6) ENSP00000405294.1:n.*3262T>G
ENST00000538136.1:c.3009T>G (MSH6) ENSP00000438580.1:p.Leu1003=
ENST00000540021.5:c.3525T>G (MSH6) ENSP00000446475.1:p.Leu1175=
ENST00000614496.4:c.3009T>G (MSH6) ENSP00000477844.1:p.Leu1003=
ENST00000622629.4:c.816T>G (MSH6) ENSP00000482078.1:p.Leu272=
NM_000179.2:c.3915T>G , LRG_219t1:c.3915T>G (MSH6) NP_000170.1:p.Leu1305=
NM_001281492.1:c.3525T>G (MSH6) NP_001268421.1:p.Leu1175=
NM_001281493.1:c.3009T>G (MSH6) NP_001268422.1:p.Leu1003=
NM_001281494.1:c.3009T>G (MSH6) NP_001268423.1:p.Leu1003=
XM_005264271.1:c.3618T>G (MSH6) XP_005264328.1:p.Leu1206=
XM_011532798.1:c.3732T>G (MSH6) XP_011531100.1:p.Leu1244=
XM_011532799.1:c.3618T>G (MSH6) XP_011531101.1:p.Leu1206=
XM_011532800.1:c.3618T>G (MSH6) XP_011531102.1:p.Leu1206=
XM_024452819.1:c.4008T>G (MSH6) XP_024308587.1:p.Leu1336=
XM_024452820.1:c.3825T>G (MSH6) XP_024308588.1:p.Leu1275=
XM_024452821.1:c.3711T>G (MSH6) XP_024308589.1:p.Leu1237=
XM_024452822.1:c.3102T>G (MSH6) XP_024308590.1:p.Leu1034=
NM_000179.3:c.3915T>G (MSH6) MANE Select NP_000170.1:p.Leu1305=
NM_001281492.2:c.3525T>G (MSH6) NP_001268421.1:p.Leu1175=
NM_001281493.2:c.3009T>G (MSH6) NP_001268422.1:p.Leu1003=
NM_001281494.2:c.3009T>G (MSH6) NP_001268423.1:p.Leu1003=