Canonical Allele Identifier: CA346760516

Gene: MSH6 FBXO11

Linked Data

• MyVariant Identifiers: chr2:g.48032782A>C (hg19) ; chr2:g.47805643A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805643A>C , CM000664.2:g.47805643A>C	GRCh38
NC_000002.11:g.48032782A>C , CM000664.1:g.48032782A>C	GRCh37
NC_000002.10:g.47886286A>C	NCBI36
NG_007111.1:g.27497A>C , LRG_219:g.27497A>C
NG_008397.1:g.105033T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3285A>C (MSH6)	ENSP00000406248.2:p.Leu1095Phe
ENST00000420813.6:c.3285A>C (MSH6)	ENSP00000390382.2:p.Leu1095Phe
ENST00000455383.6:c.3285A>C (MSH6)	ENSP00000397484.2:p.Leu1095Phe
ENST00000700004.2:c.3198A>C (MSH6)	ENSP00000514752.2:p.Leu1066Phe
ENST00000699999.1:n.4256A>C (MSH6)
ENST00000700000.1:c.2016A>C (MSH6)	ENSP00000514749.1:p.Leu672Phe
ENST00000700002.1:c.3588A>C (MSH6)	ENSP00000514750.1:p.Leu1196Phe
ENST00000700003.1:c.1037A>C (MSH6)	ENSP00000514751.1:n.1037A>C
ENST00000700004.1:c.2355A>C (MSH6)	ENSP00000514752.1:p.Leu785Phe
ENST00000700005.1:n.2433A>C (MSH6)
ENST00000700006.1:n.4244A>C (MSH6)
ENST00000700007.1:n.2177A>C (MSH6)
ENST00000700008.1:n.1751A>C (MSH6)
ENST00000700009.1:n.1750A>C (MSH6)
ENST00000700010.1:n.991A>C (MSH6)
ENST00000700011.1:n.2876A>C (MSH6)
ENST00000234420.11:c.3582A>C (MSH6) MANE Select	ENSP00000234420.5:p.Leu1194Phe
ENST00000540021.6:c.3192A>C (MSH6)	ENSP00000446475.1:p.Leu1064Phe
ENST00000652107.1:c.3285A>C (MSH6)	ENSP00000498629.1:p.Leu1095Phe
ENST00000673637.1:c.3285A>C (MSH6)	ENSP00000501310.1:p.Leu1095Phe
ENST00000234420.9:c.3582A>C (MSH6)	ENSP00000234420.4:p.Leu1194Phe
ENST00000405808.5:c.169+2552T>G (FBXO11)	ENSP00000385127.1:n.169+2552T>G
ENST00000434234.5:c.*124+2351T>G (FBXO11)	ENSP00000402692.1:n.*124+2351T>G
ENST00000445503.5:c.*2929A>C (MSH6)	ENSP00000405294.1:n.*2929A>C
ENST00000538136.1:c.2676A>C (MSH6)	ENSP00000438580.1:p.Leu892Phe
ENST00000540021.5:c.3192A>C (MSH6)	ENSP00000446475.1:p.Leu1064Phe
ENST00000614496.4:c.2676A>C (MSH6)	ENSP00000477844.1:p.Leu892Phe
ENST00000622629.4:c.486A>C (MSH6)	ENSP00000482078.1:p.Leu162Phe
NM_000179.2:c.3582A>C , LRG_219t1:c.3582A>C (MSH6)	NP_000170.1:p.Leu1194Phe
NM_001281492.1:c.3192A>C (MSH6)	NP_001268421.1:p.Leu1064Phe
NM_001281493.1:c.2676A>C (MSH6)	NP_001268422.1:p.Leu892Phe
NM_001281494.1:c.2676A>C (MSH6)	NP_001268423.1:p.Leu892Phe
XM_005264271.1:c.3285A>C (MSH6)	XP_005264328.1:p.Leu1095Phe
XM_011532798.1:c.3399A>C (MSH6)	XP_011531100.1:p.Leu1133Phe
XM_011532799.1:c.3285A>C (MSH6)	XP_011531101.1:p.Leu1095Phe
XM_011532800.1:c.3285A>C (MSH6)	XP_011531102.1:p.Leu1095Phe
XM_024452819.1:c.3582A>C (MSH6)	XP_024308587.1:p.Leu1194Phe
XM_024452820.1:c.3399A>C (MSH6)	XP_024308588.1:p.Leu1133Phe
XM_024452821.1:c.3285A>C (MSH6)	XP_024308589.1:p.Leu1095Phe
XM_024452822.1:c.2676A>C (MSH6)	XP_024308590.1:p.Leu892Phe
NM_000179.3:c.3582A>C (MSH6) MANE Select	NP_000170.1:p.Leu1194Phe
NM_001281492.2:c.3192A>C (MSH6)	NP_001268421.1:p.Leu1064Phe
NM_001281493.2:c.2676A>C (MSH6)	NP_001268422.1:p.Leu892Phe
NM_001281494.2:c.2676A>C (MSH6)	NP_001268423.1:p.Leu892Phe