Canonical Allele Identifier: CA532350498
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1339654520
gnomAD v2: 2-48010109-C-G
gnomAD v3: 2-47782970-C-G
gnomAD v4: 2-47782970-C-G
MyVariant Identifiers: chr2:g.48010109C>G (hg19) chr2:g.47782970C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782970C>G , CM000664.2:g.47782970C>G GRCh38
NC_000002.11:g.48010109C>G , CM000664.1:g.48010109C>G GRCh37
NC_000002.10:g.47863613C>G NCBI36
NG_007111.1:g.4824C>G , LRG_219:g.4824C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7957C>G ENSP00000498629.1:n.-37-7957C>G
ENST00000606499.1:c.-37-7957C>G ENSP00000475605.1:n.-37-7957C>G
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