Canonical Allele Identifier: CA11294038
Gene: CAPN10-DT HGNC NCBI

Linked Data

dbSNP Id: rs1133352
gnomAD v2: 2-241522252-C-T
gnomAD v3: 2-240582835-C-T
gnomAD v4: 2-240582835-C-T
MyVariant Identifiers: chr2:g.241522252C>T (hg19) chr2:g.240582835C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240582835C>T , CM000664.2:g.240582835C>T GRCh38
NC_000002.11:g.241522252C>T , CM000664.1:g.241522252C>T GRCh37
NC_000002.10:g.241170925C>T NCBI36
NG_011558.2:g.1120C>T

Transcript Alleles

HGVS Amino-acid Change
NR_103792.1:n.3482G>A
Search 100 bp 5'
Search 100 bp 3'