Canonical Allele Identifier: CA330336
Gene: MSH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 89160
ClinVar RCV Id: RCV000074621
dbSNP Id: rs181096360
gnomAD v2: 2-48010163-C-T
gnomAD v3: 2-47783024-C-T
gnomAD v4: 2-47783024-C-T
MyVariant Identifiers: chr2:g.48010163C>T (hg19) chr2:g.47783024C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783024C>T , CM000664.2:g.47783024C>T GRCh38
NC_000002.11:g.48010163C>T , CM000664.1:g.48010163C>T GRCh37
NC_000002.10:g.47863667C>T NCBI36
NG_007111.1:g.4878C>T , LRG_219:g.4878C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7903C>T ENSP00000498629.1:n.-37-7903C>T
ENST00000606499.1:c.-37-7903C>T ENSP00000475605.1:n.-37-7903C>T
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