Canonical Allele Identifier: CA346735044

Gene: MSH6

Linked Data

• ClinVar Variation Id: 1784864
• ClinVar RCV Id: RCV002419893
• dbSNP Id: rs863224620
• gnomAD v4: 2-47783436-A-C
• MyVariant Identifiers: chr2:g.48010575A>C (hg19) ; chr2:g.47783436A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783436A>C , CM000664.2:g.47783436A>C	GRCh38
NC_000002.11:g.48010575A>C , CM000664.1:g.48010575A>C	GRCh37
NC_000002.10:g.47864079A>C	NCBI36
NG_007111.1:g.5290A>C , LRG_219:g.5290A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.203A>C	ENSP00000514752.2:p.Lys68Thr
ENST00000699999.1:n.287A>C
ENST00000700000.1:c.203A>C	ENSP00000514749.1:p.Lys68Thr
ENST00000700001.1:n.275A>C
ENST00000700002.1:c.203A>C	ENSP00000514750.1:p.Lys68Thr
ENST00000700003.1:c.203A>C	ENSP00000514751.1:p.Lys68Thr
ENST00000234420.11:c.203A>C MANE Select	ENSP00000234420.5:p.Lys68Thr
ENST00000540021.6:c.203A>C	ENSP00000446475.1:p.Lys68Thr
ENST00000652107.1:c.-37-7491A>C	ENSP00000498629.1:n.-37-7491A>C
ENST00000673637.1:c.-38+205A>C	ENSP00000501310.1:n.-38+205A>C
ENST00000673922.1:n.292A>C
ENST00000234420.9:c.203A>C	ENSP00000234420.4:p.Lys68Thr
ENST00000445503.5:c.203A>C	ENSP00000405294.1:p.Lys68Thr
ENST00000456246.1:c.203A>C	ENSP00000410570.1:p.Lys68Thr
ENST00000493177.1:n.267A>C
ENST00000540021.5:c.203A>C	ENSP00000446475.1:p.Lys68Thr
ENST00000606499.1:c.-37-7491A>C	ENSP00000475605.1:n.-37-7491A>C
ENST00000614496.4:c.-534A>C	ENSP00000477844.1:n.-534A>C
ENST00000616033.4:c.200A>C	ENSP00000480261.1:p.Lys67Thr
ENST00000622629.4:c.-2894A>C	ENSP00000482078.1:n.-2894A>C
NM_000179.2:c.203A>C , LRG_219t1:c.203A>C	NP_000170.1:p.Lys68Thr
NM_001281492.1:c.203A>C	NP_001268421.1:p.Lys68Thr
NM_001281493.1:c.-534A>C	NP_001268422.1:n.-534A>C
XM_011532800.1:c.-38+205A>C	XP_011531102.1:n.-38+205A>C
XM_024452819.1:c.203A>C	XP_024308587.1:p.Lys68Thr
XM_024452822.1:c.-534A>C	XP_024308590.1:n.-534A>C
NM_000179.3:c.203A>C MANE Select	NP_000170.1:p.Lys68Thr
NM_001281492.2:c.203A>C	NP_001268421.1:p.Lys68Thr
NM_001281493.2:c.-534A>C	NP_001268422.1:n.-534A>C