Canonical Allele Identifier: CA346761568

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 923715
• ClinVar RCV Id: RCV001184633
• dbSNP Id: rs1670146687
• gnomAD v4: 2-47806625-G-C
• MyVariant Identifiers: chr2:g.48033764G>C (hg19) ; chr2:g.47806625G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806625G>C , CM000664.2:g.47806625G>C	GRCh38
NC_000002.11:g.48033764G>C , CM000664.1:g.48033764G>C	GRCh37
NC_000002.10:g.47887268G>C	NCBI36
NG_007111.1:g.28479G>C , LRG_219:g.28479G>C
NG_008397.1:g.104051C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3678G>C (MSH6)	ENSP00000406248.2:p.Lys1226Asn
ENST00000420813.6:c.3678G>C (MSH6)	ENSP00000390382.2:p.Lys1226Asn
ENST00000455383.6:c.3678G>C (MSH6)	ENSP00000397484.2:p.Lys1226Asn
ENST00000700004.2:c.3591G>C (MSH6)	ENSP00000514752.2:p.Lys1197Asn
ENST00000699999.1:n.4649G>C (MSH6)
ENST00000700000.1:c.2409G>C (MSH6)	ENSP00000514749.1:p.Lys803Asn
ENST00000700002.1:c.3981G>C (MSH6)	ENSP00000514750.1:p.Lys1327Asn
ENST00000700003.1:c.1430G>C (MSH6)	ENSP00000514751.1:n.1430G>C
ENST00000700004.1:c.2748G>C (MSH6)	ENSP00000514752.1:p.Lys916Asn
ENST00000700005.1:n.2826G>C (MSH6)
ENST00000700006.1:n.5133G>C (MSH6)
ENST00000700007.1:n.2570G>C (MSH6)
ENST00000700008.1:n.2237G>C (MSH6)
ENST00000700009.1:n.2639G>C (MSH6)
ENST00000700010.1:n.1384G>C (MSH6)
ENST00000700011.1:n.3269G>C (MSH6)
ENST00000682451.1:n.4123C>G (FBXO11)
ENST00000684712.1:n.4385C>G (FBXO11)
ENST00000234420.11:c.3975G>C (MSH6) MANE Select	ENSP00000234420.5:p.Lys1325Asn
ENST00000540021.6:c.3585G>C (MSH6)	ENSP00000446475.1:p.Lys1195Asn
ENST00000652107.1:c.3678G>C (MSH6)	ENSP00000498629.1:p.Lys1226Asn
ENST00000673637.1:c.3678G>C (MSH6)	ENSP00000501310.1:p.Lys1226Asn
ENST00000234420.9:c.3975G>C (MSH6)	ENSP00000234420.4:p.Lys1325Asn
ENST00000405808.5:c.169+1570C>G (FBXO11)	ENSP00000385127.1:n.169+1570C>G
ENST00000434234.5:c.*124+1369C>G (FBXO11)	ENSP00000402692.1:n.*124+1369C>G
ENST00000445503.5:c.*3322G>C (MSH6)	ENSP00000405294.1:n.*3322G>C
ENST00000538136.1:c.3069G>C (MSH6)	ENSP00000438580.1:p.Lys1023Asn
ENST00000540021.5:c.3585G>C (MSH6)	ENSP00000446475.1:p.Lys1195Asn
ENST00000614496.4:c.3069G>C (MSH6)	ENSP00000477844.1:p.Lys1023Asn
ENST00000622629.4:c.876G>C (MSH6)	ENSP00000482078.1:p.Lys292Asn
NM_000179.2:c.3975G>C , LRG_219t1:c.3975G>C (MSH6)	NP_000170.1:p.Lys1325Asn
NM_001281492.1:c.3585G>C (MSH6)	NP_001268421.1:p.Lys1195Asn
NM_001281493.1:c.3069G>C (MSH6)	NP_001268422.1:p.Lys1023Asn
NM_001281494.1:c.3069G>C (MSH6)	NP_001268423.1:p.Lys1023Asn
XM_005264271.1:c.3678G>C (MSH6)	XP_005264328.1:p.Lys1226Asn
XM_011532798.1:c.3792G>C (MSH6)	XP_011531100.1:p.Lys1264Asn
XM_011532799.1:c.3678G>C (MSH6)	XP_011531101.1:p.Lys1226Asn
XM_011532800.1:c.3678G>C (MSH6)	XP_011531102.1:p.Lys1226Asn
XM_024452819.1:c.4068G>C (MSH6)	XP_024308587.1:p.Lys1356Asn
XM_024452820.1:c.3885G>C (MSH6)	XP_024308588.1:p.Lys1295Asn
XM_024452821.1:c.3771G>C (MSH6)	XP_024308589.1:p.Lys1257Asn
XM_024452822.1:c.3162G>C (MSH6)	XP_024308590.1:p.Lys1054Asn
NM_000179.3:c.3975G>C (MSH6) MANE Select	NP_000170.1:p.Lys1325Asn
NM_001281492.2:c.3585G>C (MSH6)	NP_001268421.1:p.Lys1195Asn
NM_001281493.2:c.3069G>C (MSH6)	NP_001268422.1:p.Lys1023Asn
NM_001281494.2:c.3069G>C (MSH6)	NP_001268423.1:p.Lys1023Asn