Canonical Allele Identifier: CA532350496
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs943498729
gnomAD v2: 2-48010106-G-C
gnomAD v3: 2-47782967-G-C
gnomAD v4: 2-47782967-G-C
MyVariant Identifiers: chr2:g.48010106G>C (hg19) chr2:g.47782967G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782967G>C , CM000664.2:g.47782967G>C GRCh38
NC_000002.11:g.48010106G>C , CM000664.1:g.48010106G>C GRCh37
NC_000002.10:g.47863610G>C NCBI36
NG_007111.1:g.4821G>C , LRG_219:g.4821G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7960G>C ENSP00000498629.1:n.-37-7960G>C
ENST00000606499.1:c.-37-7960G>C ENSP00000475605.1:n.-37-7960G>C
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