Canonical Allele Identifier: CA346760538

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2587333
• ClinVar RCV Id: RCV003360811
• MyVariant Identifiers: chr2:g.48032792G>T (hg19) ; chr2:g.47805653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805653G>T , CM000664.2:g.47805653G>T	GRCh38
NC_000002.11:g.48032792G>T , CM000664.1:g.48032792G>T	GRCh37
NC_000002.10:g.47886296G>T	NCBI36
NG_007111.1:g.27507G>T , LRG_219:g.27507G>T
NG_008397.1:g.105023C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3295G>T (MSH6)	ENSP00000406248.2:p.Ala1099Ser
ENST00000420813.6:c.3295G>T (MSH6)	ENSP00000390382.2:p.Ala1099Ser
ENST00000455383.6:c.3295G>T (MSH6)	ENSP00000397484.2:p.Ala1099Ser
ENST00000700004.2:c.3208G>T (MSH6)	ENSP00000514752.2:p.Ala1070Ser
ENST00000699999.1:n.4266G>T (MSH6)
ENST00000700000.1:c.2026G>T (MSH6)	ENSP00000514749.1:p.Ala676Ser
ENST00000700002.1:c.3598G>T (MSH6)	ENSP00000514750.1:p.Ala1200Ser
ENST00000700003.1:c.1047G>T (MSH6)	ENSP00000514751.1:n.1047G>T
ENST00000700004.1:c.2365G>T (MSH6)	ENSP00000514752.1:p.Ala789Ser
ENST00000700005.1:n.2443G>T (MSH6)
ENST00000700006.1:n.4254G>T (MSH6)
ENST00000700007.1:n.2187G>T (MSH6)
ENST00000700008.1:n.1761G>T (MSH6)
ENST00000700009.1:n.1760G>T (MSH6)
ENST00000700010.1:n.1001G>T (MSH6)
ENST00000700011.1:n.2886G>T (MSH6)
ENST00000234420.11:c.3592G>T (MSH6) MANE Select	ENSP00000234420.5:p.Ala1198Ser
ENST00000540021.6:c.3202G>T (MSH6)	ENSP00000446475.1:p.Ala1068Ser
ENST00000652107.1:c.3295G>T (MSH6)	ENSP00000498629.1:p.Ala1099Ser
ENST00000673637.1:c.3295G>T (MSH6)	ENSP00000501310.1:p.Ala1099Ser
ENST00000234420.9:c.3592G>T (MSH6)	ENSP00000234420.4:p.Ala1198Ser
ENST00000405808.5:c.169+2542C>A (FBXO11)	ENSP00000385127.1:n.169+2542C>A
ENST00000434234.5:c.*124+2341C>A (FBXO11)	ENSP00000402692.1:n.*124+2341C>A
ENST00000445503.5:c.*2939G>T (MSH6)	ENSP00000405294.1:n.*2939G>T
ENST00000538136.1:c.2686G>T (MSH6)	ENSP00000438580.1:p.Ala896Ser
ENST00000540021.5:c.3202G>T (MSH6)	ENSP00000446475.1:p.Ala1068Ser
ENST00000614496.4:c.2686G>T (MSH6)	ENSP00000477844.1:p.Ala896Ser
ENST00000622629.4:c.496G>T (MSH6)	ENSP00000482078.1:p.Ala166Ser
NM_000179.2:c.3592G>T , LRG_219t1:c.3592G>T (MSH6)	NP_000170.1:p.Ala1198Ser
NM_001281492.1:c.3202G>T (MSH6)	NP_001268421.1:p.Ala1068Ser
NM_001281493.1:c.2686G>T (MSH6)	NP_001268422.1:p.Ala896Ser
NM_001281494.1:c.2686G>T (MSH6)	NP_001268423.1:p.Ala896Ser
XM_005264271.1:c.3295G>T (MSH6)	XP_005264328.1:p.Ala1099Ser
XM_011532798.1:c.3409G>T (MSH6)	XP_011531100.1:p.Ala1137Ser
XM_011532799.1:c.3295G>T (MSH6)	XP_011531101.1:p.Ala1099Ser
XM_011532800.1:c.3295G>T (MSH6)	XP_011531102.1:p.Ala1099Ser
XM_024452819.1:c.3592G>T (MSH6)	XP_024308587.1:p.Ala1198Ser
XM_024452820.1:c.3409G>T (MSH6)	XP_024308588.1:p.Ala1137Ser
XM_024452821.1:c.3295G>T (MSH6)	XP_024308589.1:p.Ala1099Ser
XM_024452822.1:c.2686G>T (MSH6)	XP_024308590.1:p.Ala896Ser
NM_000179.3:c.3592G>T (MSH6) MANE Select	NP_000170.1:p.Ala1198Ser
NM_001281492.2:c.3202G>T (MSH6)	NP_001268421.1:p.Ala1068Ser
NM_001281493.2:c.2686G>T (MSH6)	NP_001268422.1:p.Ala896Ser
NM_001281494.2:c.2686G>T (MSH6)	NP_001268423.1:p.Ala896Ser