Canonical Allele Identifier: CA769468144
Gene: MSH6 HGNC NCBI

Linked Data

dbSNP Id: rs1261895330
gnomAD v3: 2-47783011-T-C
gnomAD v4: 2-47783011-T-C
MyVariant Identifiers: chr2:g.48010150T>C (hg19) chr2:g.47783011T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47783011T>C , CM000664.2:g.47783011T>C GRCh38
NC_000002.11:g.48010150T>C , CM000664.1:g.48010150T>C GRCh37
NC_000002.10:g.47863654T>C NCBI36
NG_007111.1:g.4865T>C , LRG_219:g.4865T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000652107.1:c.-37-7916T>C ENSP00000498629.1:n.-37-7916T>C
ENST00000606499.1:c.-37-7916T>C ENSP00000475605.1:n.-37-7916T>C
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