Canonical Allele Identifier: CA540546282
Gene: CAPN10 HGNC NCBI

Linked Data

dbSNP Id: rs1473366950
gnomAD v2: 2-241542621-C-G
gnomAD v3: 2-240603204-C-G
gnomAD v4: 2-240603204-C-G
MyVariant Identifiers: chr2:g.241542621C>G (hg19) chr2:g.240603204C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240603204C>G , CM000664.2:g.240603204C>G GRCh38
NC_000002.11:g.241542621C>G , CM000664.1:g.241542621C>G GRCh37
NC_000002.10:g.241191294C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000270364.11:c.274-13184C>G ENSP00000270364.7:n.274-13184C>G
ENST00000426297.1:c.167-3183C>G
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