Canonical Allele Identifier: CA346734830

Gene: MSH6

Linked Data

• ClinVar Variation Id: 573535
• ClinVar RCV Id: RCV000695232 ; RCV000772889
• dbSNP Id: rs878853751
• gnomAD v2: 2-48010470-G-T
• gnomAD v3: 2-47783331-G-T
• gnomAD v4: 2-47783331-G-T
• MyVariant Identifiers: chr2:g.48010470G>T (hg19) ; chr2:g.47783331G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783331G>T , CM000664.2:g.47783331G>T	GRCh38
NC_000002.11:g.48010470G>T , CM000664.1:g.48010470G>T	GRCh37
NC_000002.10:g.47863974G>T	NCBI36
NG_007111.1:g.5185G>T , LRG_219:g.5185G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.98G>T	ENSP00000514752.2:p.Arg33Leu
ENST00000699999.1:n.182G>T
ENST00000700000.1:c.98G>T	ENSP00000514749.1:p.Arg33Leu
ENST00000700001.1:n.170G>T
ENST00000700002.1:c.98G>T	ENSP00000514750.1:p.Arg33Leu
ENST00000700003.1:c.98G>T	ENSP00000514751.1:p.Arg33Leu
ENST00000234420.11:c.98G>T MANE Select	ENSP00000234420.5:p.Arg33Leu
ENST00000540021.6:c.98G>T	ENSP00000446475.1:p.Arg33Leu
ENST00000652107.1:c.-37-7596G>T	ENSP00000498629.1:n.-37-7596G>T
ENST00000673637.1:c.-38+100G>T	ENSP00000501310.1:n.-38+100G>T
ENST00000673922.1:n.187G>T
ENST00000234420.9:c.98G>T	ENSP00000234420.4:p.Arg33Leu
ENST00000445503.5:c.98G>T	ENSP00000405294.1:p.Arg33Leu
ENST00000456246.1:c.98G>T	ENSP00000410570.1:p.Arg33Leu
ENST00000493177.1:n.162G>T
ENST00000540021.5:c.98G>T	ENSP00000446475.1:p.Arg33Leu
ENST00000606499.1:c.-37-7596G>T	ENSP00000475605.1:n.-37-7596G>T
ENST00000614496.4:c.-639G>T	ENSP00000477844.1:n.-639G>T
ENST00000616033.4:c.98G>T	ENSP00000480261.1:p.Arg33Leu
ENST00000622629.4:c.-2999G>T	ENSP00000482078.1:n.-2999G>T
NM_000179.2:c.98G>T , LRG_219t1:c.98G>T	NP_000170.1:p.Arg33Leu
NM_001281492.1:c.98G>T	NP_001268421.1:p.Arg33Leu
NM_001281493.1:c.-639G>T	NP_001268422.1:n.-639G>T
XM_011532800.1:c.-38+100G>T	XP_011531102.1:n.-38+100G>T
XM_024452819.1:c.98G>T	XP_024308587.1:p.Arg33Leu
XM_024452822.1:c.-639G>T	XP_024308590.1:n.-639G>T
NM_000179.3:c.98G>T MANE Select	NP_000170.1:p.Arg33Leu
NM_001281492.2:c.98G>T	NP_001268421.1:p.Arg33Leu
NM_001281493.2:c.-639G>T	NP_001268422.1:n.-639G>T