Canonical Allele Identifier: CA426121814

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 479865
• ClinVar RCV Id: RCV000563387 ; RCV000603353 ; RCV001364712 ; RCV004000867
• dbSNP Id: rs1553331315
• gnomAD v4: 2-47803478-A-G
• MyVariant Identifiers: chr2:g.48030617A>G (hg19) ; chr2:g.47803478A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803478A>G , CM000664.2:g.47803478A>G	GRCh38
NC_000002.11:g.48030617A>G , CM000664.1:g.48030617A>G	GRCh37
NC_000002.10:g.47884121A>G	NCBI36
NG_007111.1:g.25332A>G , LRG_219:g.25332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2934A>G (MSH6)	ENSP00000406248.2:p.Pro978=
ENST00000420813.6:c.2934A>G (MSH6)	ENSP00000390382.2:p.Pro978=
ENST00000455383.6:c.2934A>G (MSH6)	ENSP00000397484.2:p.Pro978=
ENST00000700004.2:c.3173-2140A>G (MSH6)	ENSP00000514752.2:n.3173-2140A>G
ENST00000699999.1:n.3315A>G (MSH6)
ENST00000700000.1:c.1665A>G (MSH6)	ENSP00000514749.1:p.Pro555=
ENST00000700002.1:c.3237A>G (MSH6)	ENSP00000514750.1:p.Pro1079=
ENST00000700003.1:c.686A>G (MSH6)	ENSP00000514751.1:p.Gln229Arg
ENST00000700004.1:c.2330-2140A>G (MSH6)	ENSP00000514752.1:n.2330-2140A>G
ENST00000700005.1:n.2082A>G (MSH6)
ENST00000700006.1:n.2079A>G (MSH6)
ENST00000700007.1:n.1236A>G (MSH6)
ENST00000700008.1:n.810A>G (MSH6)
ENST00000700009.1:n.809A>G (MSH6)
ENST00000700010.1:n.640A>G (MSH6)
ENST00000700011.1:n.711A>G (MSH6)
ENST00000234420.11:c.3231A>G (MSH6) MANE Select	ENSP00000234420.5:p.Pro1077=
ENST00000540021.6:c.2841A>G (MSH6)	ENSP00000446475.1:p.Pro947=
ENST00000652107.1:c.2934A>G (MSH6)	ENSP00000498629.1:p.Pro978=
ENST00000673637.1:c.2934A>G (MSH6)	ENSP00000501310.1:p.Pro978=
ENST00000234420.9:c.3231A>G (MSH6)	ENSP00000234420.4:p.Pro1077=
ENST00000405808.5:c.169+4717T>C (FBXO11)	ENSP00000385127.1:n.169+4717T>C
ENST00000434234.5:c.*124+4516T>C (FBXO11)	ENSP00000402692.1:n.*124+4516T>C
ENST00000445503.5:c.*2578A>G (MSH6)	ENSP00000405294.1:n.*2578A>G
ENST00000538136.1:c.2325A>G (MSH6)	ENSP00000438580.1:p.Pro775=
ENST00000540021.5:c.2841A>G (MSH6)	ENSP00000446475.1:p.Pro947=
ENST00000614496.4:c.2325A>G (MSH6)	ENSP00000477844.1:p.Pro775=
ENST00000622629.4:c.135A>G (MSH6)	ENSP00000482078.1:p.Pro45=
NM_000179.2:c.3231A>G , LRG_219t1:c.3231A>G (MSH6)	NP_000170.1:p.Pro1077=
NM_001281492.1:c.2841A>G (MSH6)	NP_001268421.1:p.Pro947=
NM_001281493.1:c.2325A>G (MSH6)	NP_001268422.1:p.Pro775=
NM_001281494.1:c.2325A>G (MSH6)	NP_001268423.1:p.Pro775=
XM_005264271.1:c.2934A>G (MSH6)	XP_005264328.1:p.Pro978=
XM_011532798.1:c.3048A>G (MSH6)	XP_011531100.1:p.Pro1016=
XM_011532799.1:c.2934A>G (MSH6)	XP_011531101.1:p.Pro978=
XM_011532800.1:c.2934A>G (MSH6)	XP_011531102.1:p.Pro978=
XM_024452819.1:c.3231A>G (MSH6)	XP_024308587.1:p.Pro1077=
XM_024452820.1:c.3048A>G (MSH6)	XP_024308588.1:p.Pro1016=
XM_024452821.1:c.2934A>G (MSH6)	XP_024308589.1:p.Pro978=
XM_024452822.1:c.2325A>G (MSH6)	XP_024308590.1:p.Pro775=
NM_000179.3:c.3231A>G (MSH6) MANE Select	NP_000170.1:p.Pro1077=
NM_001281492.2:c.2841A>G (MSH6)	NP_001268421.1:p.Pro947=
NM_001281493.2:c.2325A>G (MSH6)	NP_001268422.1:p.Pro775=
NM_001281494.2:c.2325A>G (MSH6)	NP_001268423.1:p.Pro775=