Canonical Allele Identifier: CA337552

Gene: MSH6

Linked Data

• ClinVar Variation Id: 216296
• ClinVar RCV Id: RCV000197947 ; RCV000575386 ; RCV000765677 ; RCV003996993
• dbSNP Id: rs863224616
• gnomAD v2: 2-48010508-G-C
• gnomAD v4: 2-47783369-G-C
• MyVariant Identifiers: chr2:g.48010508G>C (hg19) ; chr2:g.47783369G>C (hg38)
• PubMed: PMID:22495361

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783369G>C , CM000664.2:g.47783369G>C	GRCh38
NC_000002.11:g.48010508G>C , CM000664.1:g.48010508G>C	GRCh37
NC_000002.10:g.47864012G>C	NCBI36
NG_007111.1:g.5223G>C , LRG_219:g.5223G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.136G>C	ENSP00000514752.2:p.Gly46Arg
ENST00000699999.1:n.220G>C
ENST00000700000.1:c.136G>C	ENSP00000514749.1:p.Gly46Arg
ENST00000700001.1:n.208G>C
ENST00000700002.1:c.136G>C	ENSP00000514750.1:p.Gly46Arg
ENST00000700003.1:c.136G>C	ENSP00000514751.1:p.Gly46Arg
ENST00000234420.11:c.136G>C MANE Select	ENSP00000234420.5:p.Gly46Arg
ENST00000540021.6:c.136G>C	ENSP00000446475.1:p.Gly46Arg
ENST00000652107.1:c.-37-7558G>C	ENSP00000498629.1:n.-37-7558G>C
ENST00000673637.1:c.-38+138G>C	ENSP00000501310.1:n.-38+138G>C
ENST00000673922.1:n.225G>C
ENST00000234420.9:c.136G>C	ENSP00000234420.4:p.Gly46Arg
ENST00000445503.5:c.136G>C	ENSP00000405294.1:p.Gly46Arg
ENST00000456246.1:c.136G>C	ENSP00000410570.1:p.Gly46Arg
ENST00000493177.1:n.200G>C
ENST00000540021.5:c.136G>C	ENSP00000446475.1:p.Gly46Arg
ENST00000606499.1:c.-37-7558G>C	ENSP00000475605.1:n.-37-7558G>C
ENST00000614496.4:c.-601G>C	ENSP00000477844.1:n.-601G>C
ENST00000616033.4:c.134G>C	ENSP00000480261.1:p.Arg45Pro
ENST00000622629.4:c.-2961G>C	ENSP00000482078.1:n.-2961G>C
NM_000179.2:c.136G>C , LRG_219t1:c.136G>C	NP_000170.1:p.Gly46Arg
NM_001281492.1:c.136G>C	NP_001268421.1:p.Gly46Arg
NM_001281493.1:c.-601G>C	NP_001268422.1:n.-601G>C
XM_011532800.1:c.-38+138G>C	XP_011531102.1:n.-38+138G>C
XM_024452819.1:c.136G>C	XP_024308587.1:p.Gly46Arg
XM_024452822.1:c.-601G>C	XP_024308590.1:n.-601G>C
NM_000179.3:c.136G>C MANE Select	NP_000170.1:p.Gly46Arg
NM_001281492.2:c.136G>C	NP_001268421.1:p.Gly46Arg
NM_001281493.2:c.-601G>C	NP_001268422.1:n.-601G>C