Canonical Allele Identifier: CA46686878
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs923554482
gnomAD v2: 2-48010098-G-A
gnomAD v3: 2-47782959-G-A
gnomAD v4: 2-47782959-G-A
MyVariant Identifiers: chr2:g.48010098G>A (hg19) chr2:g.47782959G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782959G>A , CM000664.2:g.47782959G>A GRCh38
NC_000002.11:g.48010098G>A , CM000664.1:g.48010098G>A GRCh37
NC_000002.10:g.47863602G>A NCBI36
NG_007111.1:g.4813G>A , LRG_219:g.4813G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7968G>A ENSP00000498629.1:n.-37-7968G>A
ENST00000606499.1:c.-37-7968G>A ENSP00000475605.1:n.-37-7968G>A
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