Canonical Allele Identifier: CA2658943885
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs876658758
gnomAD v4: 2-47403061-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403061C>T , CM000664.2:g.47403061C>T GRCh38
NC_000002.11:g.47630200C>T , CM000664.1:g.47630200C>T GRCh37
NC_000002.10:g.47483704C>T NCBI36
NG_007110.2:g.4938C>T , LRG_218:g.4938C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-131C>T ENSP00000233146.2:n.-131C>T
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