Canonical Allele Identifier: CA532350513
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1442173420
gnomAD v2: 2-48010148-A-G
gnomAD v3: 2-47783009-A-G
gnomAD v4: 2-47783009-A-G
MyVariant Identifiers: chr2:g.48010148A>G (hg19) chr2:g.47783009A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783009A>G , CM000664.2:g.47783009A>G GRCh38
NC_000002.11:g.48010148A>G , CM000664.1:g.48010148A>G GRCh37
NC_000002.10:g.47863652A>G NCBI36
NG_007111.1:g.4863A>G , LRG_219:g.4863A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7918A>G ENSP00000498629.1:n.-37-7918A>G
ENST00000606499.1:c.-37-7918A>G ENSP00000475605.1:n.-37-7918A>G
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