Canonical Allele Identifier: CA426122160

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 799686
• ClinVar RCV Id: RCV000983301
• dbSNP Id: rs769973928
• gnomAD v4: 2-47806574-C-G
• MyVariant Identifiers: chr2:g.48033713C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806574C>G , CM000664.2:g.47806574C>G	GRCh38
NC_000002.11:g.48033713C>G , CM000664.1:g.48033713C>G	GRCh37
NC_000002.10:g.47887217C>G	NCBI36
NG_007111.1:g.28428C>G , LRG_219:g.28428C>G
NG_008397.1:g.104102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3627C>G (MSH6)	ENSP00000406248.2:p.Leu1209=
ENST00000420813.6:c.3627C>G (MSH6)	ENSP00000390382.2:p.Leu1209=
ENST00000455383.6:c.3627C>G (MSH6)	ENSP00000397484.2:p.Leu1209=
ENST00000700004.2:c.3540C>G (MSH6)	ENSP00000514752.2:p.Leu1180=
ENST00000699999.1:n.4598C>G (MSH6)
ENST00000700000.1:c.2358C>G (MSH6)	ENSP00000514749.1:p.Leu786=
ENST00000700002.1:c.3930C>G (MSH6)	ENSP00000514750.1:p.Leu1310=
ENST00000700003.1:c.1379C>G (MSH6)	ENSP00000514751.1:n.1379C>G
ENST00000700004.1:c.2697C>G (MSH6)	ENSP00000514752.1:p.Leu899=
ENST00000700005.1:n.2775C>G (MSH6)
ENST00000700006.1:n.5082C>G (MSH6)
ENST00000700007.1:n.2519C>G (MSH6)
ENST00000700008.1:n.2186C>G (MSH6)
ENST00000700009.1:n.2588C>G (MSH6)
ENST00000700010.1:n.1333C>G (MSH6)
ENST00000700011.1:n.3218C>G (MSH6)
ENST00000682451.1:n.4174G>C (FBXO11)
ENST00000684712.1:n.4436G>C (FBXO11)
ENST00000234420.11:c.3924C>G (MSH6) MANE Select	ENSP00000234420.5:p.Leu1308=
ENST00000540021.6:c.3534C>G (MSH6)	ENSP00000446475.1:p.Leu1178=
ENST00000652107.1:c.3627C>G (MSH6)	ENSP00000498629.1:p.Leu1209=
ENST00000673637.1:c.3627C>G (MSH6)	ENSP00000501310.1:p.Leu1209=
ENST00000234420.9:c.3924C>G (MSH6)	ENSP00000234420.4:p.Leu1308=
ENST00000405808.5:c.169+1621G>C (FBXO11)	ENSP00000385127.1:n.169+1621G>C
ENST00000434234.5:c.*124+1420G>C (FBXO11)	ENSP00000402692.1:n.*124+1420G>C
ENST00000445503.5:c.*3271C>G (MSH6)	ENSP00000405294.1:n.*3271C>G
ENST00000538136.1:c.3018C>G (MSH6)	ENSP00000438580.1:p.Leu1006=
ENST00000540021.5:c.3534C>G (MSH6)	ENSP00000446475.1:p.Leu1178=
ENST00000614496.4:c.3018C>G (MSH6)	ENSP00000477844.1:p.Leu1006=
ENST00000622629.4:c.825C>G (MSH6)	ENSP00000482078.1:p.Leu275=
NM_000179.2:c.3924C>G , LRG_219t1:c.3924C>G (MSH6)	NP_000170.1:p.Leu1308=
NM_001281492.1:c.3534C>G (MSH6)	NP_001268421.1:p.Leu1178=
NM_001281493.1:c.3018C>G (MSH6)	NP_001268422.1:p.Leu1006=
NM_001281494.1:c.3018C>G (MSH6)	NP_001268423.1:p.Leu1006=
XM_005264271.1:c.3627C>G (MSH6)	XP_005264328.1:p.Leu1209=
XM_011532798.1:c.3741C>G (MSH6)	XP_011531100.1:p.Leu1247=
XM_011532799.1:c.3627C>G (MSH6)	XP_011531101.1:p.Leu1209=
XM_011532800.1:c.3627C>G (MSH6)	XP_011531102.1:p.Leu1209=
XM_024452819.1:c.4017C>G (MSH6)	XP_024308587.1:p.Leu1339=
XM_024452820.1:c.3834C>G (MSH6)	XP_024308588.1:p.Leu1278=
XM_024452821.1:c.3720C>G (MSH6)	XP_024308589.1:p.Leu1240=
XM_024452822.1:c.3111C>G (MSH6)	XP_024308590.1:p.Leu1037=
NM_000179.3:c.3924C>G (MSH6) MANE Select	NP_000170.1:p.Leu1308=
NM_001281492.2:c.3534C>G (MSH6)	NP_001268421.1:p.Leu1178=
NM_001281493.2:c.3018C>G (MSH6)	NP_001268422.1:p.Leu1006=
NM_001281494.2:c.3018C>G (MSH6)	NP_001268423.1:p.Leu1006=