Canonical Allele Identifier: CA008148

Gene: MSH6

Linked Data

• ClinVar Variation Id: 184795
• ClinVar RCV Id: RCV000164111 ; RCV001440060
• dbSNP Id: rs786201700
• gnomAD v2: 2-48010486-C-T
• gnomAD v4: 2-47783347-C-T
• MyVariant Identifiers: chr2:g.48010486C>T (hg19) ; chr2:g.47783347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783347C>T , CM000664.2:g.47783347C>T	GRCh38
NC_000002.11:g.48010486C>T , CM000664.1:g.48010486C>T	GRCh37
NC_000002.10:g.47863990C>T	NCBI36
NG_007111.1:g.5201C>T , LRG_219:g.5201C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.114C>T	ENSP00000514752.2:p.Pro38=
ENST00000699999.1:n.198C>T
ENST00000700000.1:c.114C>T	ENSP00000514749.1:p.Pro38=
ENST00000700001.1:n.186C>T
ENST00000700002.1:c.114C>T	ENSP00000514750.1:p.Pro38=
ENST00000700003.1:c.114C>T	ENSP00000514751.1:p.Pro38=
ENST00000234420.11:c.114C>T MANE Select	ENSP00000234420.5:p.Pro38=
ENST00000540021.6:c.114C>T	ENSP00000446475.1:p.Pro38=
ENST00000652107.1:c.-37-7580C>T	ENSP00000498629.1:n.-37-7580C>T
ENST00000673637.1:c.-38+116C>T	ENSP00000501310.1:n.-38+116C>T
ENST00000673922.1:n.203C>T
ENST00000234420.9:c.114C>T	ENSP00000234420.4:p.Pro38=
ENST00000445503.5:c.114C>T	ENSP00000405294.1:p.Pro38=
ENST00000456246.1:c.114C>T	ENSP00000410570.1:p.Pro38=
ENST00000493177.1:n.178C>T
ENST00000540021.5:c.114C>T	ENSP00000446475.1:p.Pro38=
ENST00000606499.1:c.-37-7580C>T	ENSP00000475605.1:n.-37-7580C>T
ENST00000614496.4:c.-623C>T	ENSP00000477844.1:n.-623C>T
ENST00000616033.4:c.112C>T	ENSP00000480261.1:p.Arg38Trp
ENST00000622629.4:c.-2983C>T	ENSP00000482078.1:n.-2983C>T
NM_000179.2:c.114C>T , LRG_219t1:c.114C>T	NP_000170.1:p.Pro38=
NM_001281492.1:c.114C>T	NP_001268421.1:p.Pro38=
NM_001281493.1:c.-623C>T	NP_001268422.1:n.-623C>T
XM_011532800.1:c.-38+116C>T	XP_011531102.1:n.-38+116C>T
XM_024452819.1:c.114C>T	XP_024308587.1:p.Pro38=
XM_024452822.1:c.-623C>T	XP_024308590.1:n.-623C>T
NM_000179.3:c.114C>T MANE Select	NP_000170.1:p.Pro38=
NM_001281492.2:c.114C>T	NP_001268421.1:p.Pro38=
NM_001281493.2:c.-623C>T	NP_001268422.1:n.-623C>T