Canonical Allele Identifier: CA013308

Linked Data

ClinVar Variation Id: 185718
dbSNP Id: rs200120044
gnomAD v2: 2-48032147-C-G
gnomAD v3: 2-47805008-C-G
gnomAD v4: 2-47805008-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47805008C>G , CM000664.2:g.47805008C>G GRCh38
NC_000002.11:g.48032147C>G , CM000664.1:g.48032147C>G GRCh37
NC_000002.10:g.47885651C>G NCBI36
NG_007111.1:g.26862C>G , LRG_219:g.26862C>G
NG_008397.1:g.105668G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000411819.2:c.3240C>G (MSH6) ENSP00000406248.2:p.Ala1080=
ENST00000420813.6:c.3240C>G (MSH6) ENSP00000390382.2:p.Ala1080=
ENST00000455383.6:c.3240C>G (MSH6) ENSP00000397484.2:p.Ala1080=
ENST00000700004.2:c.3173-610C>G (MSH6) ENSP00000514752.2:n.3173-610C>G
ENST00000699999.1:n.3621C>G (MSH6)
ENST00000700000.1:c.1971C>G (MSH6) ENSP00000514749.1:p.Ala657=
ENST00000700002.1:c.3543C>G (MSH6) ENSP00000514750.1:p.Ala1181=
ENST00000700003.1:c.992C>G (MSH6) ENSP00000514751.1:n.992C>G
ENST00000700004.1:c.2330-610C>G (MSH6) ENSP00000514752.1:n.2330-610C>G
ENST00000700005.1:n.2388C>G (MSH6)
ENST00000700006.1:n.3609C>G (MSH6)
ENST00000700007.1:n.1542C>G (MSH6)
ENST00000700008.1:n.1116C>G (MSH6)
ENST00000700009.1:n.1115C>G (MSH6)
ENST00000700010.1:n.946C>G (MSH6)
ENST00000700011.1:n.2241C>G (MSH6)
ENST00000234420.11:c.3537C>G (MSH6) MANE Select ENSP00000234420.5:p.Ala1179=
ENST00000540021.6:c.3147C>G (MSH6) ENSP00000446475.1:p.Ala1049=
ENST00000652107.1:c.3240C>G (MSH6) ENSP00000498629.1:p.Ala1080=
ENST00000673637.1:c.3240C>G (MSH6) ENSP00000501310.1:p.Ala1080=
ENST00000234420.9:c.3537C>G (MSH6) ENSP00000234420.4:p.Ala1179=
ENST00000405808.5:c.169+3187G>C (FBXO11) ENSP00000385127.1:n.169+3187G>C
ENST00000434234.5:c.*124+2986G>C (FBXO11) ENSP00000402692.1:n.*124+2986G>C
ENST00000445503.5:c.*2884C>G (MSH6) ENSP00000405294.1:n.*2884C>G
ENST00000538136.1:c.2631C>G (MSH6) ENSP00000438580.1:p.Ala877=
ENST00000540021.5:c.3147C>G (MSH6) ENSP00000446475.1:p.Ala1049=
ENST00000614496.4:c.2631C>G (MSH6) ENSP00000477844.1:p.Ala877=
ENST00000622629.4:c.441C>G (MSH6) ENSP00000482078.1:p.Ala147=
NM_000179.2:c.3537C>G , LRG_219t1:c.3537C>G (MSH6) NP_000170.1:p.Ala1179=
NM_001281492.1:c.3147C>G (MSH6) NP_001268421.1:p.Ala1049=
NM_001281493.1:c.2631C>G (MSH6) NP_001268422.1:p.Ala877=
NM_001281494.1:c.2631C>G (MSH6) NP_001268423.1:p.Ala877=
XM_005264271.1:c.3240C>G (MSH6) XP_005264328.1:p.Ala1080=
XM_011532798.1:c.3354C>G (MSH6) XP_011531100.1:p.Ala1118=
XM_011532799.1:c.3240C>G (MSH6) XP_011531101.1:p.Ala1080=
XM_011532800.1:c.3240C>G (MSH6) XP_011531102.1:p.Ala1080=
XM_024452819.1:c.3537C>G (MSH6) XP_024308587.1:p.Ala1179=
XM_024452820.1:c.3354C>G (MSH6) XP_024308588.1:p.Ala1118=
XM_024452821.1:c.3240C>G (MSH6) XP_024308589.1:p.Ala1080=
XM_024452822.1:c.2631C>G (MSH6) XP_024308590.1:p.Ala877=
NM_000179.3:c.3537C>G (MSH6) MANE Select NP_000170.1:p.Ala1179=
NM_001281492.2:c.3147C>G (MSH6) NP_001268421.1:p.Ala1049=
NM_001281493.2:c.2631C>G (MSH6) NP_001268422.1:p.Ala877=
NM_001281494.2:c.2631C>G (MSH6) NP_001268423.1:p.Ala877=