Canonical Allele Identifier: CA2658966110

Gene: MSH6

Linked Data

• gnomAD v4: 2-47783613-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783613A>G , CM000664.2:g.47783613A>G	GRCh38
NC_000002.11:g.48010752A>G , CM000664.1:g.48010752A>G	GRCh37
NC_000002.10:g.47864256A>G	NCBI36
NG_007111.1:g.5467A>G , LRG_219:g.5467A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455383.6:c.-203A>G	ENSP00000397484.2:n.-203A>G
ENST00000700004.2:c.260+120A>G	ENSP00000514752.2:n.260+120A>G
ENST00000699999.1:n.344+120A>G
ENST00000700000.1:c.260+120A>G	ENSP00000514749.1:n.260+120A>G
ENST00000700001.1:n.332+120A>G
ENST00000700002.1:c.260+120A>G	ENSP00000514750.1:n.260+120A>G
ENST00000700003.1:c.260+120A>G	ENSP00000514751.1:n.260+120A>G
ENST00000234420.11:c.260+120A>G MANE Select	ENSP00000234420.5:n.260+120A>G
ENST00000540021.6:c.237+143A>G	ENSP00000446475.1:n.237+143A>G
ENST00000652107.1:c.-37-7314A>G	ENSP00000498629.1:n.-37-7314A>G
ENST00000673637.1:c.-38+382A>G	ENSP00000501310.1:n.-38+382A>G
ENST00000673922.1:n.349+120A>G
ENST00000234420.9:c.260+120A>G	ENSP00000234420.4:n.260+120A>G
ENST00000445503.5:c.260+120A>G	ENSP00000405294.1:n.260+120A>G
ENST00000455383.5:c.-203A>G	ENSP00000397484.1:n.-203A>G
ENST00000456246.1:c.260+120A>G	ENSP00000410570.1:n.260+120A>G
ENST00000493177.1:n.324+120A>G
ENST00000540021.5:c.237+143A>G	ENSP00000446475.1:n.237+143A>G
ENST00000606499.1:c.-37-7314A>G	ENSP00000475605.1:n.-37-7314A>G
ENST00000614496.4:c.-477+120A>G	ENSP00000477844.1:n.-477+120A>G
ENST00000616033.4:c.257+120A>G	ENSP00000480261.1:n.257+120A>G
ENST00000622629.4:c.-2837+120A>G	ENSP00000482078.1:n.-2837+120A>G
NM_000179.2:c.260+120A>G , LRG_219t1:c.260+120A>G	NP_000170.1:n.260+120A>G
NM_001281492.1:c.237+143A>G	NP_001268421.1:n.237+143A>G
NM_001281493.1:c.-477+120A>G	NP_001268422.1:n.-477+120A>G
XM_011532799.1:c.-203A>G	XP_011531101.1:n.-203A>G
XM_011532800.1:c.-38+382A>G	XP_011531102.1:n.-38+382A>G
XM_024452819.1:c.260+120A>G	XP_024308587.1:n.260+120A>G
XM_024452821.1:c.-203A>G	XP_024308589.1:n.-203A>G
XM_024452822.1:c.-477+120A>G	XP_024308590.1:n.-477+120A>G
NM_000179.3:c.260+120A>G MANE Select	NP_000170.1:n.260+120A>G
NM_001281492.2:c.237+143A>G	NP_001268421.1:n.237+143A>G
NM_001281493.2:c.-477+120A>G	NP_001268422.1:n.-477+120A>G