Canonical Allele Identifier: CA68139538
Gene: CAPN10 HGNC NCBI

Linked Data

dbSNP Id: rs368658137
gnomAD v2: 2-241542612-C-A
gnomAD v3: 2-240603195-C-A
gnomAD v4: 2-240603195-C-A
MyVariant Identifiers: chr2:g.241542612C>A (hg19) chr2:g.240603195C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240603195C>A , CM000664.2:g.240603195C>A GRCh38
NC_000002.11:g.241542612C>A , CM000664.1:g.241542612C>A GRCh37
NC_000002.10:g.241191285C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270364.11:c.274-13193C>A ENSP00000270364.7:n.274-13193C>A
ENST00000426297.1:c.167-3192C>A
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