Canonical Allele Identifier: CA68119114
Gene: CAPN10-DT HGNC NCBI

Linked Data

dbSNP Id: rs952251477
gnomAD v3: 2-240582832-G-C
gnomAD v4: 2-240582832-G-C
MyVariant Identifiers: chr2:g.241522249G>C (hg19) chr2:g.240582832G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240582832G>C , CM000664.2:g.240582832G>C GRCh38
NC_000002.11:g.241522249G>C , CM000664.1:g.241522249G>C GRCh37
NC_000002.10:g.241170922G>C NCBI36
NG_011558.2:g.1117G>C

Transcript Alleles

HGVS Amino-acid Change
NR_103792.1:n.3485C>G
Search 100 bp 5'
Search 100 bp 3'