Canonical Allele Identifier: CA346761462

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2453210
• ClinVar RCV Id: RCV003182665
• dbSNP Id: rs1670123500
• gnomAD v4: 2-47806572-C-A
• MyVariant Identifiers: chr2:g.48033711C>A (hg19) ; chr2:g.47806572C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806572C>A , CM000664.2:g.47806572C>A	GRCh38
NC_000002.11:g.48033711C>A , CM000664.1:g.48033711C>A	GRCh37
NC_000002.10:g.47887215C>A	NCBI36
NG_007111.1:g.28426C>A , LRG_219:g.28426C>A
NG_008397.1:g.104104G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3625C>A (MSH6)	ENSP00000406248.2:p.Leu1209Ile
ENST00000420813.6:c.3625C>A (MSH6)	ENSP00000390382.2:p.Leu1209Ile
ENST00000455383.6:c.3625C>A (MSH6)	ENSP00000397484.2:p.Leu1209Ile
ENST00000700004.2:c.3538C>A (MSH6)	ENSP00000514752.2:p.Leu1180Ile
ENST00000699999.1:n.4596C>A (MSH6)
ENST00000700000.1:c.2356C>A (MSH6)	ENSP00000514749.1:p.Leu786Ile
ENST00000700002.1:c.3928C>A (MSH6)	ENSP00000514750.1:p.Leu1310Ile
ENST00000700003.1:c.1377C>A (MSH6)	ENSP00000514751.1:n.1377C>A
ENST00000700004.1:c.2695C>A (MSH6)	ENSP00000514752.1:p.Leu899Ile
ENST00000700005.1:n.2773C>A (MSH6)
ENST00000700006.1:n.5080C>A (MSH6)
ENST00000700007.1:n.2517C>A (MSH6)
ENST00000700008.1:n.2184C>A (MSH6)
ENST00000700009.1:n.2586C>A (MSH6)
ENST00000700010.1:n.1331C>A (MSH6)
ENST00000700011.1:n.3216C>A (MSH6)
ENST00000682451.1:n.4176G>T (FBXO11)
ENST00000684712.1:n.4438G>T (FBXO11)
ENST00000234420.11:c.3922C>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu1308Ile
ENST00000540021.6:c.3532C>A (MSH6)	ENSP00000446475.1:p.Leu1178Ile
ENST00000652107.1:c.3625C>A (MSH6)	ENSP00000498629.1:p.Leu1209Ile
ENST00000673637.1:c.3625C>A (MSH6)	ENSP00000501310.1:p.Leu1209Ile
ENST00000234420.9:c.3922C>A (MSH6)	ENSP00000234420.4:p.Leu1308Ile
ENST00000405808.5:c.169+1623G>T (FBXO11)	ENSP00000385127.1:n.169+1623G>T
ENST00000434234.5:c.*124+1422G>T (FBXO11)	ENSP00000402692.1:n.*124+1422G>T
ENST00000445503.5:c.*3269C>A (MSH6)	ENSP00000405294.1:n.*3269C>A
ENST00000538136.1:c.3016C>A (MSH6)	ENSP00000438580.1:p.Leu1006Ile
ENST00000540021.5:c.3532C>A (MSH6)	ENSP00000446475.1:p.Leu1178Ile
ENST00000614496.4:c.3016C>A (MSH6)	ENSP00000477844.1:p.Leu1006Ile
ENST00000622629.4:c.823C>A (MSH6)	ENSP00000482078.1:p.Leu275Ile
NM_000179.2:c.3922C>A , LRG_219t1:c.3922C>A (MSH6)	NP_000170.1:p.Leu1308Ile
NM_001281492.1:c.3532C>A (MSH6)	NP_001268421.1:p.Leu1178Ile
NM_001281493.1:c.3016C>A (MSH6)	NP_001268422.1:p.Leu1006Ile
NM_001281494.1:c.3016C>A (MSH6)	NP_001268423.1:p.Leu1006Ile
XM_005264271.1:c.3625C>A (MSH6)	XP_005264328.1:p.Leu1209Ile
XM_011532798.1:c.3739C>A (MSH6)	XP_011531100.1:p.Leu1247Ile
XM_011532799.1:c.3625C>A (MSH6)	XP_011531101.1:p.Leu1209Ile
XM_011532800.1:c.3625C>A (MSH6)	XP_011531102.1:p.Leu1209Ile
XM_024452819.1:c.4015C>A (MSH6)	XP_024308587.1:p.Leu1339Ile
XM_024452820.1:c.3832C>A (MSH6)	XP_024308588.1:p.Leu1278Ile
XM_024452821.1:c.3718C>A (MSH6)	XP_024308589.1:p.Leu1240Ile
XM_024452822.1:c.3109C>A (MSH6)	XP_024308590.1:p.Leu1037Ile
NM_000179.3:c.3922C>A (MSH6) MANE Select	NP_000170.1:p.Leu1308Ile
NM_001281492.2:c.3532C>A (MSH6)	NP_001268421.1:p.Leu1178Ile
NM_001281493.2:c.3016C>A (MSH6)	NP_001268422.1:p.Leu1006Ile
NM_001281494.2:c.3016C>A (MSH6)	NP_001268423.1:p.Leu1006Ile