Canonical Allele Identifier: CA46686884
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs990317242
gnomAD v3: 2-47782960-G-A
gnomAD v4: 2-47782960-G-A
MyVariant Identifiers: chr2:g.48010099G>A (hg19) chr2:g.47782960G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782960G>A , CM000664.2:g.47782960G>A GRCh38
NC_000002.11:g.48010099G>A , CM000664.1:g.48010099G>A GRCh37
NC_000002.10:g.47863603G>A NCBI36
NG_007111.1:g.4814G>A , LRG_219:g.4814G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7967G>A ENSP00000498629.1:n.-37-7967G>A
ENST00000606499.1:c.-37-7967G>A ENSP00000475605.1:n.-37-7967G>A
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