Canonical Allele Identifier: CA346761018

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs786203260
• gnomAD v4: 2-47806277-A-C
• MyVariant Identifiers: chr2:g.48033416A>C (hg19) ; chr2:g.47806277A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806277A>C , CM000664.2:g.47806277A>C	GRCh38
NC_000002.11:g.48033416A>C , CM000664.1:g.48033416A>C	GRCh37
NC_000002.10:g.47886920A>C	NCBI36
NG_007111.1:g.28131A>C , LRG_219:g.28131A>C
NG_008397.1:g.104399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3423A>C (MSH6)	ENSP00000406248.2:p.Lys1141Asn
ENST00000420813.6:c.3423A>C (MSH6)	ENSP00000390382.2:p.Lys1141Asn
ENST00000455383.6:c.3423A>C (MSH6)	ENSP00000397484.2:p.Lys1141Asn
ENST00000700004.2:c.3336A>C (MSH6)	ENSP00000514752.2:p.Lys1112Asn
ENST00000699999.1:n.4394A>C (MSH6)
ENST00000700000.1:c.2154A>C (MSH6)	ENSP00000514749.1:p.Lys718Asn
ENST00000700002.1:c.3726A>C (MSH6)	ENSP00000514750.1:p.Lys1242Asn
ENST00000700003.1:c.1175A>C (MSH6)	ENSP00000514751.1:n.1175A>C
ENST00000700004.1:c.2493A>C (MSH6)	ENSP00000514752.1:p.Lys831Asn
ENST00000700005.1:n.2571A>C (MSH6)
ENST00000700006.1:n.4878A>C (MSH6)
ENST00000700007.1:n.2315A>C (MSH6)
ENST00000700008.1:n.1889A>C (MSH6)
ENST00000700009.1:n.2384A>C (MSH6)
ENST00000700010.1:n.1129A>C (MSH6)
ENST00000700011.1:n.3014A>C (MSH6)
ENST00000682451.1:n.4471T>G (FBXO11)
ENST00000684712.1:n.4733T>G (FBXO11)
ENST00000234420.11:c.3720A>C (MSH6) MANE Select	ENSP00000234420.5:p.Lys1240Asn
ENST00000540021.6:c.3330A>C (MSH6)	ENSP00000446475.1:p.Lys1110Asn
ENST00000652107.1:c.3423A>C (MSH6)	ENSP00000498629.1:p.Lys1141Asn
ENST00000673637.1:c.3423A>C (MSH6)	ENSP00000501310.1:p.Lys1141Asn
ENST00000234420.9:c.3720A>C (MSH6)	ENSP00000234420.4:p.Lys1240Asn
ENST00000405808.5:c.169+1918T>G (FBXO11)	ENSP00000385127.1:n.169+1918T>G
ENST00000434234.5:c.*124+1717T>G (FBXO11)	ENSP00000402692.1:n.*124+1717T>G
ENST00000445503.5:c.*3067A>C (MSH6)	ENSP00000405294.1:n.*3067A>C
ENST00000538136.1:c.2814A>C (MSH6)	ENSP00000438580.1:p.Lys938Asn
ENST00000540021.5:c.3330A>C (MSH6)	ENSP00000446475.1:p.Lys1110Asn
ENST00000614496.4:c.2814A>C (MSH6)	ENSP00000477844.1:p.Lys938Asn
ENST00000622629.4:c.624A>C (MSH6)	ENSP00000482078.1:p.Lys208Asn
NM_000179.2:c.3720A>C , LRG_219t1:c.3720A>C (MSH6)	NP_000170.1:p.Lys1240Asn
NM_001281492.1:c.3330A>C (MSH6)	NP_001268421.1:p.Lys1110Asn
NM_001281493.1:c.2814A>C (MSH6)	NP_001268422.1:p.Lys938Asn
NM_001281494.1:c.2814A>C (MSH6)	NP_001268423.1:p.Lys938Asn
XM_005264271.1:c.3423A>C (MSH6)	XP_005264328.1:p.Lys1141Asn
XM_011532798.1:c.3537A>C (MSH6)	XP_011531100.1:p.Lys1179Asn
XM_011532799.1:c.3423A>C (MSH6)	XP_011531101.1:p.Lys1141Asn
XM_011532800.1:c.3423A>C (MSH6)	XP_011531102.1:p.Lys1141Asn
XM_024452819.1:c.3720A>C (MSH6)	XP_024308587.1:p.Lys1240Asn
XM_024452820.1:c.3537A>C (MSH6)	XP_024308588.1:p.Lys1179Asn
XM_024452821.1:c.3423A>C (MSH6)	XP_024308589.1:p.Lys1141Asn
XM_024452822.1:c.2814A>C (MSH6)	XP_024308590.1:p.Lys938Asn
NM_000179.3:c.3720A>C (MSH6) MANE Select	NP_000170.1:p.Lys1240Asn
NM_001281492.2:c.3330A>C (MSH6)	NP_001268421.1:p.Lys1110Asn
NM_001281493.2:c.2814A>C (MSH6)	NP_001268422.1:p.Lys938Asn
NM_001281494.2:c.2814A>C (MSH6)	NP_001268423.1:p.Lys938Asn