Canonical Allele Identifier: CA46719365

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1039964
• ClinVar RCV Id: RCV001343533
• dbSNP Id: rs1000702910
• gnomAD v2: 2-48033408-A-C
• gnomAD v3: 2-47806269-A-C
• gnomAD v4: 2-47806269-A-C
• MyVariant Identifiers: chr2:g.48033408A>C (hg19) ; chr2:g.47806269A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806269A>C , CM000664.2:g.47806269A>C	GRCh38
NC_000002.11:g.48033408A>C , CM000664.1:g.48033408A>C	GRCh37
NC_000002.10:g.47886912A>C	NCBI36
NG_007111.1:g.28123A>C , LRG_219:g.28123A>C
NG_008397.1:g.104407T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3415A>C (MSH6)	ENSP00000406248.2:p.Thr1139Pro
ENST00000420813.6:c.3415A>C (MSH6)	ENSP00000390382.2:p.Thr1139Pro
ENST00000455383.6:c.3415A>C (MSH6)	ENSP00000397484.2:p.Thr1139Pro
ENST00000700004.2:c.3328A>C (MSH6)	ENSP00000514752.2:p.Thr1110Pro
ENST00000699999.1:n.4386A>C (MSH6)
ENST00000700000.1:c.2146A>C (MSH6)	ENSP00000514749.1:p.Thr716Pro
ENST00000700002.1:c.3718A>C (MSH6)	ENSP00000514750.1:p.Thr1240Pro
ENST00000700003.1:c.1167A>C (MSH6)	ENSP00000514751.1:n.1167A>C
ENST00000700004.1:c.2485A>C (MSH6)	ENSP00000514752.1:p.Thr829Pro
ENST00000700005.1:n.2563A>C (MSH6)
ENST00000700006.1:n.4870A>C (MSH6)
ENST00000700007.1:n.2307A>C (MSH6)
ENST00000700008.1:n.1881A>C (MSH6)
ENST00000700009.1:n.2376A>C (MSH6)
ENST00000700010.1:n.1121A>C (MSH6)
ENST00000700011.1:n.3006A>C (MSH6)
ENST00000682451.1:n.4479T>G (FBXO11)
ENST00000684712.1:n.4741T>G (FBXO11)
ENST00000234420.11:c.3712A>C (MSH6) MANE Select	ENSP00000234420.5:p.Thr1238Pro
ENST00000540021.6:c.3322A>C (MSH6)	ENSP00000446475.1:p.Thr1108Pro
ENST00000652107.1:c.3415A>C (MSH6)	ENSP00000498629.1:p.Thr1139Pro
ENST00000673637.1:c.3415A>C (MSH6)	ENSP00000501310.1:p.Thr1139Pro
ENST00000234420.9:c.3712A>C (MSH6)	ENSP00000234420.4:p.Thr1238Pro
ENST00000405808.5:c.169+1926T>G (FBXO11)	ENSP00000385127.1:n.169+1926T>G
ENST00000434234.5:c.*124+1725T>G (FBXO11)	ENSP00000402692.1:n.*124+1725T>G
ENST00000445503.5:c.*3059A>C (MSH6)	ENSP00000405294.1:n.*3059A>C
ENST00000538136.1:c.2806A>C (MSH6)	ENSP00000438580.1:p.Thr936Pro
ENST00000540021.5:c.3322A>C (MSH6)	ENSP00000446475.1:p.Thr1108Pro
ENST00000614496.4:c.2806A>C (MSH6)	ENSP00000477844.1:p.Thr936Pro
ENST00000622629.4:c.616A>C (MSH6)	ENSP00000482078.1:p.Thr206Pro
NM_000179.2:c.3712A>C , LRG_219t1:c.3712A>C (MSH6)	NP_000170.1:p.Thr1238Pro
NM_001281492.1:c.3322A>C (MSH6)	NP_001268421.1:p.Thr1108Pro
NM_001281493.1:c.2806A>C (MSH6)	NP_001268422.1:p.Thr936Pro
NM_001281494.1:c.2806A>C (MSH6)	NP_001268423.1:p.Thr936Pro
XM_005264271.1:c.3415A>C (MSH6)	XP_005264328.1:p.Thr1139Pro
XM_011532798.1:c.3529A>C (MSH6)	XP_011531100.1:p.Thr1177Pro
XM_011532799.1:c.3415A>C (MSH6)	XP_011531101.1:p.Thr1139Pro
XM_011532800.1:c.3415A>C (MSH6)	XP_011531102.1:p.Thr1139Pro
XM_024452819.1:c.3712A>C (MSH6)	XP_024308587.1:p.Thr1238Pro
XM_024452820.1:c.3529A>C (MSH6)	XP_024308588.1:p.Thr1177Pro
XM_024452821.1:c.3415A>C (MSH6)	XP_024308589.1:p.Thr1139Pro
XM_024452822.1:c.2806A>C (MSH6)	XP_024308590.1:p.Thr936Pro
NM_000179.3:c.3712A>C (MSH6) MANE Select	NP_000170.1:p.Thr1238Pro
NM_001281492.2:c.3322A>C (MSH6)	NP_001268421.1:p.Thr1108Pro
NM_001281493.2:c.2806A>C (MSH6)	NP_001268422.1:p.Thr936Pro
NM_001281494.2:c.2806A>C (MSH6)	NP_001268423.1:p.Thr936Pro