Canonical Allele Identifier: CA007830

Gene: MSH6

Linked Data

• ClinVar Variation Id: 183756
• ClinVar RCV Id: RCV000162474 ; RCV000759840 ; RCV001084817 ; RCV001194333 ; RCV001357215
• dbSNP Id: rs201132087
• ExAC: 2:48010474 C / A
• gnomAD v2: 2-48010474-C-A
• gnomAD v3: 2-47783335-C-A
• gnomAD v4: 2-47783335-C-A
• MyVariant Identifiers: chr2:g.48010474C>A (hg19) ; chr2:g.47783335C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783335C>A , CM000664.2:g.47783335C>A	GRCh38
NC_000002.11:g.48010474C>A , CM000664.1:g.48010474C>A	GRCh37
NC_000002.10:g.47863978C>A	NCBI36
NG_007111.1:g.5189C>A , LRG_219:g.5189C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.102C>A	ENSP00000514752.2:p.Ala34=
ENST00000699999.1:n.186C>A
ENST00000700000.1:c.102C>A	ENSP00000514749.1:p.Ala34=
ENST00000700001.1:n.174C>A
ENST00000700002.1:c.102C>A	ENSP00000514750.1:p.Ala34=
ENST00000700003.1:c.102C>A	ENSP00000514751.1:p.Ala34=
ENST00000234420.11:c.102C>A MANE Select	ENSP00000234420.5:p.Ala34=
ENST00000540021.6:c.102C>A	ENSP00000446475.1:p.Ala34=
ENST00000652107.1:c.-37-7592C>A	ENSP00000498629.1:n.-37-7592C>A
ENST00000673637.1:c.-38+104C>A	ENSP00000501310.1:n.-38+104C>A
ENST00000673922.1:n.191C>A
ENST00000234420.9:c.102C>A	ENSP00000234420.4:p.Ala34=
ENST00000445503.5:c.102C>A	ENSP00000405294.1:p.Ala34=
ENST00000456246.1:c.102C>A	ENSP00000410570.1:p.Ala34=
ENST00000493177.1:n.166C>A
ENST00000540021.5:c.102C>A	ENSP00000446475.1:p.Ala34=
ENST00000606499.1:c.-37-7592C>A	ENSP00000475605.1:n.-37-7592C>A
ENST00000614496.4:c.-635C>A	ENSP00000477844.1:n.-635C>A
ENST00000616033.4:c.102C>A	ENSP00000480261.1:p.Ala34=
ENST00000622629.4:c.-2995C>A	ENSP00000482078.1:n.-2995C>A
NM_000179.2:c.102C>A , LRG_219t1:c.102C>A	NP_000170.1:p.Ala34=
NM_001281492.1:c.102C>A	NP_001268421.1:p.Ala34=
NM_001281493.1:c.-635C>A	NP_001268422.1:n.-635C>A
XM_011532800.1:c.-38+104C>A	XP_011531102.1:n.-38+104C>A
XM_024452819.1:c.102C>A	XP_024308587.1:p.Ala34=
XM_024452822.1:c.-635C>A	XP_024308590.1:n.-635C>A
NM_000179.3:c.102C>A MANE Select	NP_000170.1:p.Ala34=
NM_001281492.2:c.102C>A	NP_001268421.1:p.Ala34=
NM_001281493.2:c.-635C>A	NP_001268422.1:n.-635C>A