Canonical Allele Identifier: CA45096678

Gene: CAPN13

Linked Data

• dbSNP Id: rs866762162
• gnomAD v3: 2-30806910-C-T
• gnomAD v4: 2-30806910-C-T
• MyVariant Identifiers: chr2:g.31029776C>T (hg19) ; chr2:g.30806910C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.30806910C>T , CM000664.2:g.30806910C>T	GRCh38
NC_000002.11:g.31029776C>T , CM000664.1:g.31029776C>T	GRCh37
NC_000002.10:g.30883280C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295055.12:c.-33+392G>A MANE Select	ENSP00000295055.8:n.-33+392G>A
ENST00000458085.6:c.-119+392G>A	ENSP00000416191.2:n.-119+392G>A
ENST00000465960.2:n.317+392G>A
ENST00000485248.2:c.-119+392G>A	ENSP00000440723.1:n.-119+392G>A
NM_144575.2:c.-33+392G>A	NP_653176.2:n.-33+392G>A
XM_011533159.1:c.-33+392G>A	XP_011531461.1:n.-33+392G>A
XM_011533160.1:c.-119+392G>A	XP_011531462.1:n.-119+392G>A
XM_011533161.1:c.-33+392G>A	XP_011531463.1:n.-33+392G>A
XM_011533162.1:c.-33+392G>A	XP_011531464.1:n.-33+392G>A
XM_011533163.1:c.-33+392G>A	XP_011531465.1:n.-33+392G>A
XR_939741.1:n.145+392G>A
XR_939742.1:n.145+392G>A
XR_939743.1:n.145+392G>A
XM_011533159.3:c.-33+392G>A	XP_011531461.1:n.-33+392G>A
XM_011533160.2:c.-119+392G>A	XP_011531462.1:n.-119+392G>A
XM_011533161.3:c.-33+392G>A	XP_011531463.1:n.-33+392G>A
XM_011533163.3:c.-33+392G>A	XP_011531465.1:n.-33+392G>A
XM_017005264.1:c.-119+392G>A	XP_016860753.1:n.-119+392G>A
XM_017005266.2:c.-33+392G>A	XP_016860755.1:n.-33+392G>A
XR_001739074.1:n.330+392G>A
XR_939741.3:n.145+392G>A
XR_939742.3:n.145+392G>A
XR_939743.3:n.145+392G>A
NM_144575.3:c.-33+392G>A MANE Select	NP_653176.2:n.-33+392G>A