Canonical Allele Identifier: CA10578030

Gene: MSH6

Linked Data

• ClinVar Variation Id: 229968
• ClinVar RCV Id: RCV000215709 ; RCV000663019 ; RCV000874029 ; RCV003997788
• dbSNP Id: rs876658308
• gnomAD v4: 2-47783482-T-G
• MyVariant Identifiers: chr2:g.48010621T>G (hg19) ; chr2:g.47783482T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783482T>G , CM000664.2:g.47783482T>G	GRCh38
NC_000002.11:g.48010621T>G , CM000664.1:g.48010621T>G	GRCh37
NC_000002.10:g.47864125T>G	NCBI36
NG_007111.1:g.5336T>G , LRG_219:g.5336T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.249T>G	ENSP00000514752.2:p.Ala83=
ENST00000699999.1:n.333T>G
ENST00000700000.1:c.249T>G	ENSP00000514749.1:p.Ala83=
ENST00000700001.1:n.321T>G
ENST00000700002.1:c.249T>G	ENSP00000514750.1:p.Ala83=
ENST00000700003.1:c.249T>G	ENSP00000514751.1:p.Ala83=
ENST00000234420.11:c.249T>G MANE Select	ENSP00000234420.5:p.Ala83=
ENST00000540021.6:c.237+12T>G	ENSP00000446475.1:n.237+12T>G
ENST00000652107.1:c.-37-7445T>G	ENSP00000498629.1:n.-37-7445T>G
ENST00000673637.1:c.-38+251T>G	ENSP00000501310.1:n.-38+251T>G
ENST00000673922.1:n.338T>G
ENST00000234420.9:c.249T>G	ENSP00000234420.4:p.Ala83=
ENST00000445503.5:c.249T>G	ENSP00000405294.1:p.Ala83=
ENST00000456246.1:c.249T>G	ENSP00000410570.1:p.Ala83=
ENST00000493177.1:n.313T>G
ENST00000540021.5:c.237+12T>G	ENSP00000446475.1:n.237+12T>G
ENST00000606499.1:c.-37-7445T>G	ENSP00000475605.1:n.-37-7445T>G
ENST00000614496.4:c.-488T>G	ENSP00000477844.1:n.-488T>G
ENST00000616033.4:c.246T>G	ENSP00000480261.1:p.Ala82=
ENST00000622629.4:c.-2848T>G	ENSP00000482078.1:n.-2848T>G
NM_000179.2:c.249T>G , LRG_219t1:c.249T>G	NP_000170.1:p.Ala83=
NM_001281492.1:c.237+12T>G	NP_001268421.1:n.237+12T>G
NM_001281493.1:c.-488T>G	NP_001268422.1:n.-488T>G
XM_011532800.1:c.-38+251T>G	XP_011531102.1:n.-38+251T>G
XM_024452819.1:c.249T>G	XP_024308587.1:p.Ala83=
XM_024452822.1:c.-488T>G	XP_024308590.1:n.-488T>G
NM_000179.3:c.249T>G MANE Select	NP_000170.1:p.Ala83=
NM_001281492.2:c.237+12T>G	NP_001268421.1:n.237+12T>G
NM_001281493.2:c.-488T>G	NP_001268422.1:n.-488T>G