Canonical Allele Identifier: CA346761370

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1384954
• ClinVar RCV Id: RCV001902722
• dbSNP Id: rs1461336062
• MyVariant Identifiers: chr2:g.48033666G>C (hg19) ; chr2:g.47806527G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806527G>C , CM000664.2:g.47806527G>C	GRCh38
NC_000002.11:g.48033666G>C , CM000664.1:g.48033666G>C	GRCh37
NC_000002.10:g.47887170G>C	NCBI36
NG_007111.1:g.28381G>C , LRG_219:g.28381G>C
NG_008397.1:g.104149C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3580G>C (MSH6)	ENSP00000406248.2:p.Ala1194Pro
ENST00000420813.6:c.3580G>C (MSH6)	ENSP00000390382.2:p.Ala1194Pro
ENST00000455383.6:c.3580G>C (MSH6)	ENSP00000397484.2:p.Ala1194Pro
ENST00000700004.2:c.3493G>C (MSH6)	ENSP00000514752.2:p.Ala1165Pro
ENST00000699999.1:n.4551G>C (MSH6)
ENST00000700000.1:c.2311G>C (MSH6)	ENSP00000514749.1:p.Ala771Pro
ENST00000700002.1:c.3883G>C (MSH6)	ENSP00000514750.1:p.Ala1295Pro
ENST00000700003.1:c.1332G>C (MSH6)	ENSP00000514751.1:n.1332G>C
ENST00000700004.1:c.2650G>C (MSH6)	ENSP00000514752.1:p.Ala884Pro
ENST00000700005.1:n.2728G>C (MSH6)
ENST00000700006.1:n.5035G>C (MSH6)
ENST00000700007.1:n.2472G>C (MSH6)
ENST00000700008.1:n.2139G>C (MSH6)
ENST00000700009.1:n.2541G>C (MSH6)
ENST00000700010.1:n.1286G>C (MSH6)
ENST00000700011.1:n.3171G>C (MSH6)
ENST00000682451.1:n.4221C>G (FBXO11)
ENST00000684712.1:n.4483C>G (FBXO11)
ENST00000234420.11:c.3877G>C (MSH6) MANE Select	ENSP00000234420.5:p.Ala1293Pro
ENST00000540021.6:c.3487G>C (MSH6)	ENSP00000446475.1:p.Ala1163Pro
ENST00000652107.1:c.3580G>C (MSH6)	ENSP00000498629.1:p.Ala1194Pro
ENST00000673637.1:c.3580G>C (MSH6)	ENSP00000501310.1:p.Ala1194Pro
ENST00000234420.9:c.3877G>C (MSH6)	ENSP00000234420.4:p.Ala1293Pro
ENST00000405808.5:c.169+1668C>G (FBXO11)	ENSP00000385127.1:n.169+1668C>G
ENST00000434234.5:c.*124+1467C>G (FBXO11)	ENSP00000402692.1:n.*124+1467C>G
ENST00000445503.5:c.*3224G>C (MSH6)	ENSP00000405294.1:n.*3224G>C
ENST00000538136.1:c.2971G>C (MSH6)	ENSP00000438580.1:p.Ala991Pro
ENST00000540021.5:c.3487G>C (MSH6)	ENSP00000446475.1:p.Ala1163Pro
ENST00000614496.4:c.2971G>C (MSH6)	ENSP00000477844.1:p.Ala991Pro
ENST00000622629.4:c.778G>C (MSH6)	ENSP00000482078.1:p.Ala260Pro
NM_000179.2:c.3877G>C , LRG_219t1:c.3877G>C (MSH6)	NP_000170.1:p.Ala1293Pro
NM_001281492.1:c.3487G>C (MSH6)	NP_001268421.1:p.Ala1163Pro
NM_001281493.1:c.2971G>C (MSH6)	NP_001268422.1:p.Ala991Pro
NM_001281494.1:c.2971G>C (MSH6)	NP_001268423.1:p.Ala991Pro
XM_005264271.1:c.3580G>C (MSH6)	XP_005264328.1:p.Ala1194Pro
XM_011532798.1:c.3694G>C (MSH6)	XP_011531100.1:p.Ala1232Pro
XM_011532799.1:c.3580G>C (MSH6)	XP_011531101.1:p.Ala1194Pro
XM_011532800.1:c.3580G>C (MSH6)	XP_011531102.1:p.Ala1194Pro
XM_024452819.1:c.3970G>C (MSH6)	XP_024308587.1:p.Ala1324Pro
XM_024452820.1:c.3787G>C (MSH6)	XP_024308588.1:p.Ala1263Pro
XM_024452821.1:c.3673G>C (MSH6)	XP_024308589.1:p.Ala1225Pro
XM_024452822.1:c.3064G>C (MSH6)	XP_024308590.1:p.Ala1022Pro
NM_000179.3:c.3877G>C (MSH6) MANE Select	NP_000170.1:p.Ala1293Pro
NM_001281492.2:c.3487G>C (MSH6)	NP_001268421.1:p.Ala1163Pro
NM_001281493.2:c.2971G>C (MSH6)	NP_001268422.1:p.Ala991Pro
NM_001281494.2:c.2971G>C (MSH6)	NP_001268423.1:p.Ala991Pro