Canonical Allele Identifier: CA012971

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89393
• ClinVar RCV Id: RCV000131534 ; RCV000202300 ; RCV002513797 ; RCV002510780 ; RCV003450969 ; RCV004555853
• dbSNP Id: rs587779264
• gnomAD v4: 2-47804940-G-A
• MyVariant Identifiers: chr2:g.48032079G>A (hg19) ; chr2:g.47804940G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804940G>A , CM000664.2:g.47804940G>A	GRCh38
NC_000002.11:g.48032079G>A , CM000664.1:g.48032079G>A	GRCh37
NC_000002.10:g.47885583G>A	NCBI36
NG_007111.1:g.26794G>A , LRG_219:g.26794G>A
NG_008397.1:g.105736C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3172G>A (MSH6)	ENSP00000406248.2:p.Gly1058Ser
ENST00000420813.6:c.3172G>A (MSH6)	ENSP00000390382.2:p.Gly1058Ser
ENST00000455383.6:c.3172G>A (MSH6)	ENSP00000397484.2:p.Gly1058Ser
ENST00000700004.2:c.3173-678G>A (MSH6)	ENSP00000514752.2:n.3173-678G>A
ENST00000699999.1:n.3553G>A (MSH6)
ENST00000700000.1:c.1903G>A (MSH6)	ENSP00000514749.1:p.Gly635Ser
ENST00000700002.1:c.3475G>A (MSH6)	ENSP00000514750.1:p.Gly1159Ser
ENST00000700003.1:c.924G>A (MSH6)	ENSP00000514751.1:n.924G>A
ENST00000700004.1:c.2330-678G>A (MSH6)	ENSP00000514752.1:n.2330-678G>A
ENST00000700005.1:n.2320G>A (MSH6)
ENST00000700006.1:n.3541G>A (MSH6)
ENST00000700007.1:n.1474G>A (MSH6)
ENST00000700008.1:n.1048G>A (MSH6)
ENST00000700009.1:n.1047G>A (MSH6)
ENST00000700010.1:n.878G>A (MSH6)
ENST00000700011.1:n.2173G>A (MSH6)
ENST00000234420.11:c.3469G>A (MSH6) MANE Select	ENSP00000234420.5:p.Gly1157Ser
ENST00000540021.6:c.3079G>A (MSH6)	ENSP00000446475.1:p.Gly1027Ser
ENST00000652107.1:c.3172G>A (MSH6)	ENSP00000498629.1:p.Gly1058Ser
ENST00000673637.1:c.3172G>A (MSH6)	ENSP00000501310.1:p.Gly1058Ser
ENST00000234420.9:c.3469G>A (MSH6)	ENSP00000234420.4:p.Gly1157Ser
ENST00000405808.5:c.169+3255C>T (FBXO11)	ENSP00000385127.1:n.169+3255C>T
ENST00000434234.5:c.*124+3054C>T (FBXO11)	ENSP00000402692.1:n.*124+3054C>T
ENST00000445503.5:c.*2816G>A (MSH6)	ENSP00000405294.1:n.*2816G>A
ENST00000538136.1:c.2563G>A (MSH6)	ENSP00000438580.1:p.Gly855Ser
ENST00000540021.5:c.3079G>A (MSH6)	ENSP00000446475.1:p.Gly1027Ser
ENST00000614496.4:c.2563G>A (MSH6)	ENSP00000477844.1:p.Gly855Ser
ENST00000622629.4:c.373G>A (MSH6)	ENSP00000482078.1:p.Gly125Ser
NM_000179.2:c.3469G>A , LRG_219t1:c.3469G>A (MSH6)	NP_000170.1:p.Gly1157Ser
NM_001281492.1:c.3079G>A (MSH6)	NP_001268421.1:p.Gly1027Ser
NM_001281493.1:c.2563G>A (MSH6)	NP_001268422.1:p.Gly855Ser
NM_001281494.1:c.2563G>A (MSH6)	NP_001268423.1:p.Gly855Ser
XM_005264271.1:c.3172G>A (MSH6)	XP_005264328.1:p.Gly1058Ser
XM_011532798.1:c.3286G>A (MSH6)	XP_011531100.1:p.Gly1096Ser
XM_011532799.1:c.3172G>A (MSH6)	XP_011531101.1:p.Gly1058Ser
XM_011532800.1:c.3172G>A (MSH6)	XP_011531102.1:p.Gly1058Ser
XM_024452819.1:c.3469G>A (MSH6)	XP_024308587.1:p.Gly1157Ser
XM_024452820.1:c.3286G>A (MSH6)	XP_024308588.1:p.Gly1096Ser
XM_024452821.1:c.3172G>A (MSH6)	XP_024308589.1:p.Gly1058Ser
XM_024452822.1:c.2563G>A (MSH6)	XP_024308590.1:p.Gly855Ser
NM_000179.3:c.3469G>A (MSH6) MANE Select	NP_000170.1:p.Gly1157Ser
NM_001281492.2:c.3079G>A (MSH6)	NP_001268421.1:p.Gly1027Ser
NM_001281493.2:c.2563G>A (MSH6)	NP_001268422.1:p.Gly855Ser
NM_001281494.2:c.2563G>A (MSH6)	NP_001268423.1:p.Gly855Ser