Canonical Allele Identifier: CA11213113

Gene: CAPN10-DT

Linked Data

• dbSNP Id: rs1133353
• gnomAD v2: 2-241522267-A-T
• gnomAD v3: 2-240582850-A-T
• gnomAD v4: 2-240582850-A-T
• MyVariant Identifiers: chr2:g.241522267A>T (hg19) ; chr2:g.240582850A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240582850A>T , CM000664.2:g.240582850A>T	GRCh38
NC_000002.11:g.241522267A>T , CM000664.1:g.241522267A>T	GRCh37
NC_000002.10:g.241170940A>T	NCBI36
NG_011558.2:g.1135A>T

Transcript Alleles

HGVS	Amino-acid change
NR_103792.1:n.3467T>A