Canonical Allele Identifier: CA46686845
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs952460338
gnomAD v2: 2-48010066-A-C
gnomAD v3: 2-47782927-A-C
gnomAD v4: 2-47782927-A-C
MyVariant Identifiers: chr2:g.48010066A>C (hg19) chr2:g.47782927A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47782927A>C , CM000664.2:g.47782927A>C GRCh38
NC_000002.11:g.48010066A>C , CM000664.1:g.48010066A>C GRCh37
NC_000002.10:g.47863570A>C NCBI36
NG_007111.1:g.4781A>C , LRG_219:g.4781A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-8000A>C ENSP00000498629.1:n.-37-8000A>C
ENST00000606499.1:c.-37-8000A>C ENSP00000475605.1:n.-37-8000A>C
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