Canonical Allele Identifier: CA346734858
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 479864
ClinVar RCV Id: RCV000573137 RCV000707589 RCV001175449
dbSNP Id: rs1553408211
gnomAD v4: 2-47783346-C-T
MyVariant Identifiers: chr2:g.48010485C>T (hg19) chr2:g.47783346C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783346C>T , CM000664.2:g.47783346C>T GRCh38
NC_000002.11:g.48010485C>T , CM000664.1:g.48010485C>T GRCh37
NC_000002.10:g.47863989C>T NCBI36
NG_007111.1:g.5200C>T , LRG_219:g.5200C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000700004.2:c.113C>T ENSP00000514752.2:p.Pro38Leu
ENST00000699999.1:n.197C>T
ENST00000700000.1:c.113C>T ENSP00000514749.1:p.Pro38Leu
ENST00000700001.1:n.185C>T
ENST00000700002.1:c.113C>T ENSP00000514750.1:p.Pro38Leu
ENST00000700003.1:c.113C>T ENSP00000514751.1:p.Pro38Leu
ENST00000234420.11:c.113C>T MANE Select ENSP00000234420.5:p.Pro38Leu
ENST00000540021.6:c.113C>T ENSP00000446475.1:p.Pro38Leu
ENST00000652107.1:c.-37-7581C>T ENSP00000498629.1:n.-37-7581C>T
ENST00000673637.1:c.-38+115C>T ENSP00000501310.1:n.-38+115C>T
ENST00000673922.1:n.202C>T
ENST00000234420.9:c.113C>T ENSP00000234420.4:p.Pro38Leu
ENST00000445503.5:c.113C>T ENSP00000405294.1:p.Pro38Leu
ENST00000456246.1:c.113C>T ENSP00000410570.1:p.Pro38Leu
ENST00000493177.1:n.177C>T
ENST00000540021.5:c.113C>T ENSP00000446475.1:p.Pro38Leu
ENST00000606499.1:c.-37-7581C>T ENSP00000475605.1:n.-37-7581C>T
ENST00000614496.4:c.-624C>T ENSP00000477844.1:n.-624C>T
ENST00000616033.4:c.111C>T ENSP00000480261.1:p.Pro37=
ENST00000622629.4:c.-2984C>T ENSP00000482078.1:n.-2984C>T
NM_000179.2:c.113C>T , LRG_219t1:c.113C>T NP_000170.1:p.Pro38Leu
NM_001281492.1:c.113C>T NP_001268421.1:p.Pro38Leu
NM_001281493.1:c.-624C>T NP_001268422.1:n.-624C>T
XM_011532800.1:c.-38+115C>T XP_011531102.1:n.-38+115C>T
XM_024452819.1:c.113C>T XP_024308587.1:p.Pro38Leu
XM_024452822.1:c.-624C>T XP_024308590.1:n.-624C>T
NM_000179.3:c.113C>T MANE Select NP_000170.1:p.Pro38Leu
NM_001281492.2:c.113C>T NP_001268421.1:p.Pro38Leu
NM_001281493.2:c.-624C>T NP_001268422.1:n.-624C>T
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