Canonical Allele Identifier: CA073539

Gene: MSH6

Linked Data

• ClinVar Variation Id: 230422
• ClinVar RCV Id: RCV000217037 ; RCV000226183 ; RCV000412456 ; RCV000440408 ; RCV003997835
• dbSNP Id: rs778354962
• ExAC: 2:48010459 C / G
• gnomAD v2: 2-48010459-C-G
• gnomAD v3: 2-47783320-C-G
• gnomAD v4: 2-47783320-C-G
• MyVariant Identifiers: chr2:g.48010459C>G (hg19) ; chr2:g.47783320C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783320C>G , CM000664.2:g.47783320C>G	GRCh38
NC_000002.11:g.48010459C>G , CM000664.1:g.48010459C>G	GRCh37
NC_000002.10:g.47863963C>G	NCBI36
NG_007111.1:g.5174C>G , LRG_219:g.5174C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.87C>G	ENSP00000514752.2:p.Arg29=
ENST00000699999.1:n.171C>G
ENST00000700000.1:c.87C>G	ENSP00000514749.1:p.Arg29=
ENST00000700001.1:n.159C>G
ENST00000700002.1:c.87C>G	ENSP00000514750.1:p.Arg29=
ENST00000700003.1:c.87C>G	ENSP00000514751.1:p.Arg29=
ENST00000234420.11:c.87C>G MANE Select	ENSP00000234420.5:p.Arg29=
ENST00000540021.6:c.87C>G	ENSP00000446475.1:p.Arg29=
ENST00000652107.1:c.-37-7607C>G	ENSP00000498629.1:n.-37-7607C>G
ENST00000673637.1:c.-38+89C>G	ENSP00000501310.1:n.-38+89C>G
ENST00000673922.1:n.176C>G
ENST00000234420.9:c.87C>G	ENSP00000234420.4:p.Arg29=
ENST00000445503.5:c.87C>G	ENSP00000405294.1:p.Arg29=
ENST00000456246.1:c.87C>G	ENSP00000410570.1:p.Arg29=
ENST00000493177.1:n.151C>G
ENST00000540021.5:c.87C>G	ENSP00000446475.1:p.Arg29=
ENST00000606499.1:c.-37-7607C>G	ENSP00000475605.1:n.-37-7607C>G
ENST00000614496.4:c.-650C>G	ENSP00000477844.1:n.-650C>G
ENST00000616033.4:c.87C>G	ENSP00000480261.1:p.Arg29=
ENST00000622629.4:c.-3010C>G	ENSP00000482078.1:n.-3010C>G
NM_000179.2:c.87C>G , LRG_219t1:c.87C>G	NP_000170.1:p.Arg29=
NM_001281492.1:c.87C>G	NP_001268421.1:p.Arg29=
NM_001281493.1:c.-650C>G	NP_001268422.1:n.-650C>G
XM_011532800.1:c.-38+89C>G	XP_011531102.1:n.-38+89C>G
XM_024452819.1:c.87C>G	XP_024308587.1:p.Arg29=
XM_024452822.1:c.-650C>G	XP_024308590.1:n.-650C>G
NM_000179.3:c.87C>G MANE Select	NP_000170.1:p.Arg29=
NM_001281492.2:c.87C>G	NP_001268421.1:p.Arg29=
NM_001281493.2:c.-650C>G	NP_001268422.1:n.-650C>G