Canonical Allele Identifier: CA432004347
Gene: CAPN10-DT HGNC NCBI

Linked Data

dbSNP Id: rs1222044656
gnomAD v3: 2-240582889-T-C
gnomAD v4: 2-240582889-T-C
MyVariant Identifiers: chr2:g.241522306T>C (hg19) chr2:g.240582889T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240582889T>C , CM000664.2:g.240582889T>C GRCh38
NC_000002.11:g.241522306T>C , CM000664.1:g.241522306T>C GRCh37
NC_000002.10:g.241170979T>C NCBI36
NG_011558.2:g.1174T>C

Transcript Alleles

HGVS Amino-acid Change
NR_103792.1:n.3428A>G
Search 100 bp 5'
Search 100 bp 3'