Canonical Allele Identifier: CA658657033

Gene: MSH6

Linked Data

• ClinVar Variation Id: 455333
• ClinVar RCV Id: RCV003139748 ; RCV003459172
• dbSNP Id: rs1553408136
• MyVariant Identifiers: chr2:g.48010430dup (hg19) ; chr2:g.47783291dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783291dup , CM000664.2:g.47783291dup	GRCh38
NC_000002.11:g.48010430dup , CM000664.1:g.48010430dup	GRCh37
NC_000002.10:g.47863934dup	NCBI36
NG_007111.1:g.5145dup , LRG_219:g.5145dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700004.2:c.58dup	ENSP00000514752.2:p.Ala20GlyfsTer?
ENST00000699999.1:n.142dup
ENST00000700000.1:c.58dup	ENSP00000514749.1:p.Ala20GlyfsTer?
ENST00000700001.1:n.130dup
ENST00000700002.1:c.58dup	ENSP00000514750.1:p.Ala20GlyfsTer?
ENST00000700003.1:c.58dup	ENSP00000514751.1:p.Ala20GlyfsTer?
ENST00000234420.11:c.58dup MANE Select	ENSP00000234420.5:p.Ala20GlyfsTer?
ENST00000540021.6:c.58dup	ENSP00000446475.1:p.Ala20GlyfsTer?
ENST00000652107.1:c.-37-7636dup	ENSP00000498629.1:n.-37-7636dup
ENST00000673637.1:c.-38+60dup	ENSP00000501310.1:n.-38+60dup
ENST00000673922.1:n.147dup
ENST00000234420.9:c.58dup	ENSP00000234420.4:p.Ala20GlyfsTer?
ENST00000445503.5:c.58dup	ENSP00000405294.1:p.Ala20GlyfsTer?
ENST00000456246.1:c.58dup	ENSP00000410570.1:p.Ala20GlyfsTer?
ENST00000493177.1:n.122dup
ENST00000540021.5:c.58dup	ENSP00000446475.1:p.Ala20GlyfsTer?
ENST00000606499.1:c.-37-7636dup	ENSP00000475605.1:n.-37-7636dup
ENST00000614496.4:c.-679dup	ENSP00000477844.1:n.-679dup
ENST00000616033.4:c.58dup	ENSP00000480261.1:p.Ala20GlyfsTer?
ENST00000622629.4:c.-3039dup	ENSP00000482078.1:n.-3039dup
NM_000179.2:c.58dup , LRG_219t1:c.58dup	NP_000170.1:p.Ala20GlyfsTer?
NM_001281492.1:c.58dup	NP_001268421.1:p.Ala20GlyfsTer?
NM_001281493.1:c.-679dup	NP_001268422.1:n.-679dup
XM_011532800.1:c.-38+60dup	XP_011531102.1:n.-38+60dup
XM_024452819.1:c.58dup	XP_024308587.1:p.Ala20GlyfsTer?
XM_024452822.1:c.-679dup	XP_024308590.1:n.-679dup
NM_000179.3:c.58dup MANE Select	NP_000170.1:p.Ala20GlyfsTer?
NM_001281492.2:c.58dup	NP_001268421.1:p.Ala20GlyfsTer?
NM_001281493.2:c.-679dup	NP_001268422.1:n.-679dup