Canonical Allele Identifier: CA346734543

Gene: MSH6

Linked Data

• ClinVar Variation Id: 944227
• ClinVar RCV Id: RCV001214582 ; RCV002339560 ; RCV003478736
• dbSNP Id: rs759501511
• MyVariant Identifiers: chr2:g.48010419C>A (hg19) ; chr2:g.47783280C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783280C>A , CM000664.2:g.47783280C>A	GRCh38
NC_000002.11:g.48010419C>A , CM000664.1:g.48010419C>A	GRCh37
NC_000002.10:g.47863923C>A	NCBI36
NG_007111.1:g.5134C>A , LRG_219:g.5134C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.47C>A	ENSP00000514752.2:p.Ala16Glu
ENST00000699999.1:n.131C>A
ENST00000700000.1:c.47C>A	ENSP00000514749.1:p.Ala16Glu
ENST00000700001.1:n.119C>A
ENST00000700002.1:c.47C>A	ENSP00000514750.1:p.Ala16Glu
ENST00000700003.1:c.47C>A	ENSP00000514751.1:p.Ala16Glu
ENST00000234420.11:c.47C>A MANE Select	ENSP00000234420.5:p.Ala16Glu
ENST00000540021.6:c.47C>A	ENSP00000446475.1:p.Ala16Glu
ENST00000652107.1:c.-37-7647C>A	ENSP00000498629.1:n.-37-7647C>A
ENST00000673637.1:c.-38+49C>A	ENSP00000501310.1:n.-38+49C>A
ENST00000673922.1:n.136C>A
ENST00000234420.9:c.47C>A	ENSP00000234420.4:p.Ala16Glu
ENST00000445503.5:c.47C>A	ENSP00000405294.1:p.Ala16Glu
ENST00000456246.1:c.47C>A	ENSP00000410570.1:p.Ala16Glu
ENST00000493177.1:n.111C>A
ENST00000540021.5:c.47C>A	ENSP00000446475.1:p.Ala16Glu
ENST00000606499.1:c.-37-7647C>A	ENSP00000475605.1:n.-37-7647C>A
ENST00000614496.4:c.-690C>A	ENSP00000477844.1:n.-690C>A
ENST00000616033.4:c.47C>A	ENSP00000480261.1:p.Ala16Glu
ENST00000622629.4:c.-3050C>A	ENSP00000482078.1:n.-3050C>A
NM_000179.2:c.47C>A , LRG_219t1:c.47C>A	NP_000170.1:p.Ala16Glu
NM_001281492.1:c.47C>A	NP_001268421.1:p.Ala16Glu
NM_001281493.1:c.-690C>A	NP_001268422.1:n.-690C>A
XM_011532800.1:c.-38+49C>A	XP_011531102.1:n.-38+49C>A
XM_024452819.1:c.47C>A	XP_024308587.1:p.Ala16Glu
XM_024452822.1:c.-690C>A	XP_024308590.1:n.-690C>A
NM_000179.3:c.47C>A MANE Select	NP_000170.1:p.Ala16Glu
NM_001281492.2:c.47C>A	NP_001268421.1:p.Ala16Glu
NM_001281493.2:c.-690C>A	NP_001268422.1:n.-690C>A