Canonical Allele Identifier: CA015717

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89535
• ClinVar RCV Id: RCV000165187 ; RCV000430871 ; RCV000630398
• dbSNP Id: rs63751030
• gnomAD v2: 2-48023058-G-A
• gnomAD v4: 2-47795919-G-A
• MyVariant Identifiers: chr2:g.48023058G>A (hg19) ; chr2:g.47795919G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47795919G>A , CM000664.2:g.47795919G>A	GRCh38
NC_000002.11:g.48023058G>A , CM000664.1:g.48023058G>A	GRCh37
NC_000002.10:g.47876562G>A	NCBI36
NG_007111.1:g.17773G>A , LRG_219:g.17773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.186G>A (MSH6)	ENSP00000406248.2:p.Lys62=
ENST00000420813.6:c.186G>A (MSH6)	ENSP00000390382.2:p.Lys62=
ENST00000455383.6:c.186G>A (MSH6)	ENSP00000397484.2:p.Lys62=
ENST00000700004.2:c.483G>A (MSH6)	ENSP00000514752.2:p.Lys161=
ENST00000699999.1:n.567G>A (MSH6)
ENST00000700000.1:c.483G>A (MSH6)	ENSP00000514749.1:p.Lys161=
ENST00000700001.1:n.555G>A (MSH6)
ENST00000700002.1:c.483G>A (MSH6)	ENSP00000514750.1:p.Lys161=
ENST00000700003.1:c.483G>A (MSH6)	ENSP00000514751.1:p.Lys161=
ENST00000234420.11:c.483G>A (MSH6) MANE Select	ENSP00000234420.5:p.Lys161=
ENST00000540021.6:c.238-2692G>A (MSH6)	ENSP00000446475.1:n.238-2692G>A
ENST00000652107.1:c.186G>A (MSH6)	ENSP00000498629.1:p.Lys62=
ENST00000673637.1:c.186G>A (MSH6)	ENSP00000501310.1:p.Lys62=
ENST00000673922.1:n.350-2692G>A (MSH6)
ENST00000234420.9:c.483G>A (MSH6)	ENSP00000234420.4:p.Lys161=
ENST00000405808.5:c.170-6479C>T (FBXO11)	ENSP00000385127.1:n.170-6479C>T
ENST00000411819.1:c.186G>A (MSH6)	ENSP00000406248.1:p.Lys62=
ENST00000420813.5:c.186G>A (MSH6)	ENSP00000390382.1:p.Lys62=
ENST00000434234.5:c.*125-6479C>T (FBXO11)	ENSP00000402692.1:n.*125-6479C>T
ENST00000445503.5:c.458-2692G>A (MSH6)	ENSP00000405294.1:n.458-2692G>A
ENST00000455383.5:c.186G>A (MSH6)	ENSP00000397484.1:p.Lys62=
ENST00000456246.1:c.286G>A (MSH6)	ENSP00000410570.1:p.Gly96Arg
ENST00000538136.1:c.-420G>A (MSH6)	ENSP00000438580.1:n.-420G>A
ENST00000540021.5:c.238-2692G>A (MSH6)	ENSP00000446475.1:n.238-2692G>A
ENST00000614496.4:c.-279-2692G>A (MSH6)	ENSP00000477844.1:n.-279-2692G>A
ENST00000616033.4:c.480G>A (MSH6)	ENSP00000480261.1:p.Lys160=
ENST00000622629.4:c.-2614G>A (MSH6)	ENSP00000482078.1:n.-2614G>A
NM_000179.2:c.483G>A , LRG_219t1:c.483G>A (MSH6)	NP_000170.1:p.Lys161=
NM_001281492.1:c.238-2692G>A (MSH6)	NP_001268421.1:n.238-2692G>A
NM_001281493.1:c.-279-2692G>A (MSH6)	NP_001268422.1:n.-279-2692G>A
NM_001281494.1:c.-420G>A (MSH6)	NP_001268423.1:n.-420G>A
XM_005264271.1:c.186G>A (MSH6)	XP_005264328.1:p.Lys62=
XM_011532798.1:c.300G>A (MSH6)	XP_011531100.1:p.Lys100=
XM_011532799.1:c.186G>A (MSH6)	XP_011531101.1:p.Lys62=
XM_011532800.1:c.186G>A (MSH6)	XP_011531102.1:p.Lys62=
XM_024452819.1:c.483G>A (MSH6)	XP_024308587.1:p.Lys161=
XM_024452820.1:c.300G>A (MSH6)	XP_024308588.1:p.Lys100=
XM_024452821.1:c.186G>A (MSH6)	XP_024308589.1:p.Lys62=
XM_024452822.1:c.-279-2692G>A (MSH6)	XP_024308590.1:n.-279-2692G>A
NM_000179.3:c.483G>A (MSH6) MANE Select	NP_000170.1:p.Lys161=
NM_001281492.2:c.238-2692G>A (MSH6)	NP_001268421.1:n.238-2692G>A
NM_001281493.2:c.-279-2692G>A (MSH6)	NP_001268422.1:n.-279-2692G>A
NM_001281494.2:c.-420G>A (MSH6)	NP_001268423.1:n.-420G>A