Canonical Allele Identifier: CA346761231

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 479918
• ClinVar RCV Id: RCV000571609 ; RCV000818330 ; RCV003459290
• dbSNP Id: rs1553333303
• gnomAD v4: 2-47806462-T-C
• MyVariant Identifiers: chr2:g.48033601T>C (hg19) ; chr2:g.47806462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806462T>C , CM000664.2:g.47806462T>C	GRCh38
NC_000002.11:g.48033601T>C , CM000664.1:g.48033601T>C	GRCh37
NC_000002.10:g.47887105T>C	NCBI36
NG_007111.1:g.28316T>C , LRG_219:g.28316T>C
NG_008397.1:g.104214A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3515T>C (MSH6)	ENSP00000406248.2:p.Val1172Ala
ENST00000420813.6:c.3515T>C (MSH6)	ENSP00000390382.2:p.Val1172Ala
ENST00000455383.6:c.3515T>C (MSH6)	ENSP00000397484.2:p.Val1172Ala
ENST00000700004.2:c.3428T>C (MSH6)	ENSP00000514752.2:p.Val1143Ala
ENST00000699999.1:n.4486T>C (MSH6)
ENST00000700000.1:c.2246T>C (MSH6)	ENSP00000514749.1:p.Val749Ala
ENST00000700002.1:c.3818T>C (MSH6)	ENSP00000514750.1:p.Val1273Ala
ENST00000700003.1:c.1267T>C (MSH6)	ENSP00000514751.1:n.1267T>C
ENST00000700004.1:c.2585T>C (MSH6)	ENSP00000514752.1:p.Val862Ala
ENST00000700005.1:n.2663T>C (MSH6)
ENST00000700006.1:n.4970T>C (MSH6)
ENST00000700007.1:n.2407T>C (MSH6)
ENST00000700008.1:n.2074T>C (MSH6)
ENST00000700009.1:n.2476T>C (MSH6)
ENST00000700010.1:n.1221T>C (MSH6)
ENST00000700011.1:n.3106T>C (MSH6)
ENST00000682451.1:n.4286A>G (FBXO11)
ENST00000684712.1:n.4548A>G (FBXO11)
ENST00000234420.11:c.3812T>C (MSH6) MANE Select	ENSP00000234420.5:p.Val1271Ala
ENST00000540021.6:c.3422T>C (MSH6)	ENSP00000446475.1:p.Val1141Ala
ENST00000652107.1:c.3515T>C (MSH6)	ENSP00000498629.1:p.Val1172Ala
ENST00000673637.1:c.3515T>C (MSH6)	ENSP00000501310.1:p.Val1172Ala
ENST00000234420.9:c.3812T>C (MSH6)	ENSP00000234420.4:p.Val1271Ala
ENST00000405808.5:c.169+1733A>G (FBXO11)	ENSP00000385127.1:n.169+1733A>G
ENST00000434234.5:c.*124+1532A>G (FBXO11)	ENSP00000402692.1:n.*124+1532A>G
ENST00000445503.5:c.*3159T>C (MSH6)	ENSP00000405294.1:n.*3159T>C
ENST00000538136.1:c.2906T>C (MSH6)	ENSP00000438580.1:p.Val969Ala
ENST00000540021.5:c.3422T>C (MSH6)	ENSP00000446475.1:p.Val1141Ala
ENST00000614496.4:c.2906T>C (MSH6)	ENSP00000477844.1:p.Val969Ala
ENST00000622629.4:c.713T>C (MSH6)	ENSP00000482078.1:p.Val238Ala
NM_000179.2:c.3812T>C , LRG_219t1:c.3812T>C (MSH6)	NP_000170.1:p.Val1271Ala
NM_001281492.1:c.3422T>C (MSH6)	NP_001268421.1:p.Val1141Ala
NM_001281493.1:c.2906T>C (MSH6)	NP_001268422.1:p.Val969Ala
NM_001281494.1:c.2906T>C (MSH6)	NP_001268423.1:p.Val969Ala
XM_005264271.1:c.3515T>C (MSH6)	XP_005264328.1:p.Val1172Ala
XM_011532798.1:c.3629T>C (MSH6)	XP_011531100.1:p.Val1210Ala
XM_011532799.1:c.3515T>C (MSH6)	XP_011531101.1:p.Val1172Ala
XM_011532800.1:c.3515T>C (MSH6)	XP_011531102.1:p.Val1172Ala
XM_024452819.1:c.3905T>C (MSH6)	XP_024308587.1:p.Val1302Ala
XM_024452820.1:c.3722T>C (MSH6)	XP_024308588.1:p.Val1241Ala
XM_024452821.1:c.3608T>C (MSH6)	XP_024308589.1:p.Val1203Ala
XM_024452822.1:c.2999T>C (MSH6)	XP_024308590.1:p.Val1000Ala
NM_000179.3:c.3812T>C (MSH6) MANE Select	NP_000170.1:p.Val1271Ala
NM_001281492.2:c.3422T>C (MSH6)	NP_001268421.1:p.Val1141Ala
NM_001281493.2:c.2906T>C (MSH6)	NP_001268422.1:p.Val969Ala
NM_001281494.2:c.2906T>C (MSH6)	NP_001268423.1:p.Val969Ala