Canonical Allele Identifier: CA346759960

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1023941
• ClinVar RCV Id: RCV001324060
• dbSNP Id: rs774584492
• MyVariant Identifiers: chr2:g.48032058T>G (hg19) ; chr2:g.47804919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804919T>G , CM000664.2:g.47804919T>G	GRCh38
NC_000002.11:g.48032058T>G , CM000664.1:g.48032058T>G	GRCh37
NC_000002.10:g.47885562T>G	NCBI36
NG_007111.1:g.26773T>G , LRG_219:g.26773T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3151T>G (MSH6)	ENSP00000406248.2:p.Leu1051Val
ENST00000420813.6:c.3151T>G (MSH6)	ENSP00000390382.2:p.Leu1051Val
ENST00000455383.6:c.3151T>G (MSH6)	ENSP00000397484.2:p.Leu1051Val
ENST00000700004.2:c.3173-699T>G (MSH6)	ENSP00000514752.2:n.3173-699T>G
ENST00000699999.1:n.3532T>G (MSH6)
ENST00000700000.1:c.1882T>G (MSH6)	ENSP00000514749.1:p.Leu628Val
ENST00000700002.1:c.3454T>G (MSH6)	ENSP00000514750.1:p.Leu1152Val
ENST00000700003.1:c.903T>G (MSH6)	ENSP00000514751.1:n.903T>G
ENST00000700004.1:c.2330-699T>G (MSH6)	ENSP00000514752.1:n.2330-699T>G
ENST00000700005.1:n.2299T>G (MSH6)
ENST00000700006.1:n.3520T>G (MSH6)
ENST00000700007.1:n.1453T>G (MSH6)
ENST00000700008.1:n.1027T>G (MSH6)
ENST00000700009.1:n.1026T>G (MSH6)
ENST00000700010.1:n.857T>G (MSH6)
ENST00000700011.1:n.2152T>G (MSH6)
ENST00000234420.11:c.3448T>G (MSH6) MANE Select	ENSP00000234420.5:p.Leu1150Val
ENST00000540021.6:c.3058T>G (MSH6)	ENSP00000446475.1:p.Leu1020Val
ENST00000652107.1:c.3151T>G (MSH6)	ENSP00000498629.1:p.Leu1051Val
ENST00000673637.1:c.3151T>G (MSH6)	ENSP00000501310.1:p.Leu1051Val
ENST00000234420.9:c.3448T>G (MSH6)	ENSP00000234420.4:p.Leu1150Val
ENST00000405808.5:c.169+3276A>C (FBXO11)	ENSP00000385127.1:n.169+3276A>C
ENST00000434234.5:c.*124+3075A>C (FBXO11)	ENSP00000402692.1:n.*124+3075A>C
ENST00000445503.5:c.*2795T>G (MSH6)	ENSP00000405294.1:n.*2795T>G
ENST00000538136.1:c.2542T>G (MSH6)	ENSP00000438580.1:p.Leu848Val
ENST00000540021.5:c.3058T>G (MSH6)	ENSP00000446475.1:p.Leu1020Val
ENST00000614496.4:c.2542T>G (MSH6)	ENSP00000477844.1:p.Leu848Val
ENST00000622629.4:c.352T>G (MSH6)	ENSP00000482078.1:p.Leu118Val
NM_000179.2:c.3448T>G , LRG_219t1:c.3448T>G (MSH6)	NP_000170.1:p.Leu1150Val
NM_001281492.1:c.3058T>G (MSH6)	NP_001268421.1:p.Leu1020Val
NM_001281493.1:c.2542T>G (MSH6)	NP_001268422.1:p.Leu848Val
NM_001281494.1:c.2542T>G (MSH6)	NP_001268423.1:p.Leu848Val
XM_005264271.1:c.3151T>G (MSH6)	XP_005264328.1:p.Leu1051Val
XM_011532798.1:c.3265T>G (MSH6)	XP_011531100.1:p.Leu1089Val
XM_011532799.1:c.3151T>G (MSH6)	XP_011531101.1:p.Leu1051Val
XM_011532800.1:c.3151T>G (MSH6)	XP_011531102.1:p.Leu1051Val
XM_024452819.1:c.3448T>G (MSH6)	XP_024308587.1:p.Leu1150Val
XM_024452820.1:c.3265T>G (MSH6)	XP_024308588.1:p.Leu1089Val
XM_024452821.1:c.3151T>G (MSH6)	XP_024308589.1:p.Leu1051Val
XM_024452822.1:c.2542T>G (MSH6)	XP_024308590.1:p.Leu848Val
NM_000179.3:c.3448T>G (MSH6) MANE Select	NP_000170.1:p.Leu1150Val
NM_001281492.2:c.3058T>G (MSH6)	NP_001268421.1:p.Leu1020Val
NM_001281493.2:c.2542T>G (MSH6)	NP_001268422.1:p.Leu848Val
NM_001281494.2:c.2542T>G (MSH6)	NP_001268423.1:p.Leu848Val