Canonical Allele Identifier: CA346735205

Gene: MSH6

Linked Data

• ClinVar Variation Id: 492704
• ClinVar RCV Id: RCV000583128 ; RCV004017688
• dbSNP Id: rs1553408469
• gnomAD v4: 2-47783495-T-A
• MyVariant Identifiers: chr2:g.48010634T>A (hg19) ; chr2:g.47783495T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783495T>A , CM000664.2:g.47783495T>A	GRCh38
NC_000002.11:g.48010634T>A , CM000664.1:g.48010634T>A	GRCh37
NC_000002.10:g.47864138T>A	NCBI36
NG_007111.1:g.5349T>A , LRG_219:g.5349T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.260+2T>A	ENSP00000514752.2:n.260+2T>A
ENST00000699999.1:n.344+2T>A
ENST00000700000.1:c.260+2T>A	ENSP00000514749.1:n.260+2T>A
ENST00000700001.1:n.332+2T>A
ENST00000700002.1:c.260+2T>A	ENSP00000514750.1:n.260+2T>A
ENST00000700003.1:c.260+2T>A	ENSP00000514751.1:n.260+2T>A
ENST00000234420.11:c.260+2T>A MANE Select	ENSP00000234420.5:n.260+2T>A
ENST00000540021.6:c.237+25T>A	ENSP00000446475.1:n.237+25T>A
ENST00000652107.1:c.-37-7432T>A	ENSP00000498629.1:n.-37-7432T>A
ENST00000673637.1:c.-38+264T>A	ENSP00000501310.1:n.-38+264T>A
ENST00000673922.1:n.349+2T>A
ENST00000234420.9:c.260+2T>A	ENSP00000234420.4:n.260+2T>A
ENST00000445503.5:c.260+2T>A	ENSP00000405294.1:n.260+2T>A
ENST00000456246.1:c.260+2T>A	ENSP00000410570.1:n.260+2T>A
ENST00000493177.1:n.324+2T>A
ENST00000540021.5:c.237+25T>A	ENSP00000446475.1:n.237+25T>A
ENST00000606499.1:c.-37-7432T>A	ENSP00000475605.1:n.-37-7432T>A
ENST00000614496.4:c.-477+2T>A	ENSP00000477844.1:n.-477+2T>A
ENST00000616033.4:c.257+2T>A	ENSP00000480261.1:n.257+2T>A
ENST00000622629.4:c.-2837+2T>A	ENSP00000482078.1:n.-2837+2T>A
NM_000179.2:c.260+2T>A , LRG_219t1:c.260+2T>A	NP_000170.1:n.260+2T>A
NM_001281492.1:c.237+25T>A	NP_001268421.1:n.237+25T>A
NM_001281493.1:c.-477+2T>A	NP_001268422.1:n.-477+2T>A
XM_011532800.1:c.-38+264T>A	XP_011531102.1:n.-38+264T>A
XM_024452819.1:c.260+2T>A	XP_024308587.1:n.260+2T>A
XM_024452822.1:c.-477+2T>A	XP_024308590.1:n.-477+2T>A
NM_000179.3:c.260+2T>A MANE Select	NP_000170.1:n.260+2T>A
NM_001281492.2:c.237+25T>A	NP_001268421.1:n.237+25T>A
NM_001281493.2:c.-477+2T>A	NP_001268422.1:n.-477+2T>A