Canonical Allele Identifier: CA767704679

Gene: CAPN13

Linked Data

• dbSNP Id: rs1348311211
• gnomAD v3: 2-30806907-T-C
• gnomAD v4: 2-30806907-T-C
• MyVariant Identifiers: chr2:g.31029773T>C (hg19) ; chr2:g.30806907T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.30806907T>C , CM000664.2:g.30806907T>C	GRCh38
NC_000002.11:g.31029773T>C , CM000664.1:g.31029773T>C	GRCh37
NC_000002.10:g.30883277T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295055.12:c.-33+395A>G MANE Select	ENSP00000295055.8:n.-33+395A>G
ENST00000458085.6:c.-119+395A>G	ENSP00000416191.2:n.-119+395A>G
ENST00000465960.2:n.317+395A>G
ENST00000485248.2:c.-119+395A>G	ENSP00000440723.1:n.-119+395A>G
NM_144575.2:c.-33+395A>G	NP_653176.2:n.-33+395A>G
XM_011533159.1:c.-33+395A>G	XP_011531461.1:n.-33+395A>G
XM_011533160.1:c.-119+395A>G	XP_011531462.1:n.-119+395A>G
XM_011533161.1:c.-33+395A>G	XP_011531463.1:n.-33+395A>G
XM_011533162.1:c.-33+395A>G	XP_011531464.1:n.-33+395A>G
XM_011533163.1:c.-33+395A>G	XP_011531465.1:n.-33+395A>G
XR_939741.1:n.145+395A>G
XR_939742.1:n.145+395A>G
XR_939743.1:n.145+395A>G
XM_011533159.3:c.-33+395A>G	XP_011531461.1:n.-33+395A>G
XM_011533160.2:c.-119+395A>G	XP_011531462.1:n.-119+395A>G
XM_011533161.3:c.-33+395A>G	XP_011531463.1:n.-33+395A>G
XM_011533163.3:c.-33+395A>G	XP_011531465.1:n.-33+395A>G
XM_017005264.1:c.-119+395A>G	XP_016860753.1:n.-119+395A>G
XM_017005266.2:c.-33+395A>G	XP_016860755.1:n.-33+395A>G
XR_001739074.1:n.330+395A>G
XR_939741.3:n.145+395A>G
XR_939742.3:n.145+395A>G
XR_939743.3:n.145+395A>G
NM_144575.3:c.-33+395A>G MANE Select	NP_653176.2:n.-33+395A>G