Canonical Allele Identifier: CA346761431

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1715652
• ClinVar RCV Id: RCV002304602
• dbSNP Id: rs1553333561
• MyVariant Identifiers: chr2:g.48033693G>T (hg19) ; chr2:g.47806554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806554G>T , CM000664.2:g.47806554G>T	GRCh38
NC_000002.11:g.48033693G>T , CM000664.1:g.48033693G>T	GRCh37
NC_000002.10:g.47887197G>T	NCBI36
NG_007111.1:g.28408G>T , LRG_219:g.28408G>T
NG_008397.1:g.104122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3607G>T (MSH6)	ENSP00000406248.2:p.Ala1203Ser
ENST00000420813.6:c.3607G>T (MSH6)	ENSP00000390382.2:p.Ala1203Ser
ENST00000455383.6:c.3607G>T (MSH6)	ENSP00000397484.2:p.Ala1203Ser
ENST00000700004.2:c.3520G>T (MSH6)	ENSP00000514752.2:p.Ala1174Ser
ENST00000699999.1:n.4578G>T (MSH6)
ENST00000700000.1:c.2338G>T (MSH6)	ENSP00000514749.1:p.Ala780Ser
ENST00000700002.1:c.3910G>T (MSH6)	ENSP00000514750.1:p.Ala1304Ser
ENST00000700003.1:c.1359G>T (MSH6)	ENSP00000514751.1:n.1359G>T
ENST00000700004.1:c.2677G>T (MSH6)	ENSP00000514752.1:p.Ala893Ser
ENST00000700005.1:n.2755G>T (MSH6)
ENST00000700006.1:n.5062G>T (MSH6)
ENST00000700007.1:n.2499G>T (MSH6)
ENST00000700008.1:n.2166G>T (MSH6)
ENST00000700009.1:n.2568G>T (MSH6)
ENST00000700010.1:n.1313G>T (MSH6)
ENST00000700011.1:n.3198G>T (MSH6)
ENST00000682451.1:n.4194C>A (FBXO11)
ENST00000684712.1:n.4456C>A (FBXO11)
ENST00000234420.11:c.3904G>T (MSH6) MANE Select	ENSP00000234420.5:p.Ala1302Ser
ENST00000540021.6:c.3514G>T (MSH6)	ENSP00000446475.1:p.Ala1172Ser
ENST00000652107.1:c.3607G>T (MSH6)	ENSP00000498629.1:p.Ala1203Ser
ENST00000673637.1:c.3607G>T (MSH6)	ENSP00000501310.1:p.Ala1203Ser
ENST00000234420.9:c.3904G>T (MSH6)	ENSP00000234420.4:p.Ala1302Ser
ENST00000405808.5:c.169+1641C>A (FBXO11)	ENSP00000385127.1:n.169+1641C>A
ENST00000434234.5:c.*124+1440C>A (FBXO11)	ENSP00000402692.1:n.*124+1440C>A
ENST00000445503.5:c.*3251G>T (MSH6)	ENSP00000405294.1:n.*3251G>T
ENST00000538136.1:c.2998G>T (MSH6)	ENSP00000438580.1:p.Ala1000Ser
ENST00000540021.5:c.3514G>T (MSH6)	ENSP00000446475.1:p.Ala1172Ser
ENST00000614496.4:c.2998G>T (MSH6)	ENSP00000477844.1:p.Ala1000Ser
ENST00000622629.4:c.805G>T (MSH6)	ENSP00000482078.1:p.Ala269Ser
NM_000179.2:c.3904G>T , LRG_219t1:c.3904G>T (MSH6)	NP_000170.1:p.Ala1302Ser
NM_001281492.1:c.3514G>T (MSH6)	NP_001268421.1:p.Ala1172Ser
NM_001281493.1:c.2998G>T (MSH6)	NP_001268422.1:p.Ala1000Ser
NM_001281494.1:c.2998G>T (MSH6)	NP_001268423.1:p.Ala1000Ser
XM_005264271.1:c.3607G>T (MSH6)	XP_005264328.1:p.Ala1203Ser
XM_011532798.1:c.3721G>T (MSH6)	XP_011531100.1:p.Ala1241Ser
XM_011532799.1:c.3607G>T (MSH6)	XP_011531101.1:p.Ala1203Ser
XM_011532800.1:c.3607G>T (MSH6)	XP_011531102.1:p.Ala1203Ser
XM_024452819.1:c.3997G>T (MSH6)	XP_024308587.1:p.Ala1333Ser
XM_024452820.1:c.3814G>T (MSH6)	XP_024308588.1:p.Ala1272Ser
XM_024452821.1:c.3700G>T (MSH6)	XP_024308589.1:p.Ala1234Ser
XM_024452822.1:c.3091G>T (MSH6)	XP_024308590.1:p.Ala1031Ser
NM_000179.3:c.3904G>T (MSH6) MANE Select	NP_000170.1:p.Ala1302Ser
NM_001281492.2:c.3514G>T (MSH6)	NP_001268421.1:p.Ala1172Ser
NM_001281493.2:c.2998G>T (MSH6)	NP_001268422.1:p.Ala1000Ser
NM_001281494.2:c.2998G>T (MSH6)	NP_001268423.1:p.Ala1000Ser