Canonical Allele Identifier: CA432004377

Gene: CAPN10-DT

Linked Data

• dbSNP Id: rs1346138642
• gnomAD v3: 2-240582900-G-C
• gnomAD v4: 2-240582900-G-C
• MyVariant Identifiers: chr2:g.241522317G>C (hg19) ; chr2:g.240582900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240582900G>C , CM000664.2:g.240582900G>C	GRCh38
NC_000002.11:g.241522317G>C , CM000664.1:g.241522317G>C	GRCh37
NC_000002.10:g.241170990G>C	NCBI36
NG_011558.2:g.1185G>C

Transcript Alleles

HGVS	Amino-acid Change
NR_103792.1:n.3417C>G