Canonical Allele Identifier: CA2758650487
Gene: CLSTN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528054C>A , CM000665.2:g.140528054C>A GRCh38
NC_000003.11:g.140246896C>A , CM000665.1:g.140246896C>A GRCh37
NC_000003.10:g.141729586C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-4270C>A MANE Select ENSP00000402460.2:n.1345-4270C>A
ENST00000511524.1:n.1533-4270C>A
ENST00000620185.1:c.1153-4270C>A ENSP00000478883.1:n.1153-4270C>A
NM_022131.2:c.1345-4270C>A NP_071414.2:n.1345-4270C>A
XM_017007022.2:c.1270-4270C>A XP_016862511.1:n.1270-4270C>A
NM_022131.3:c.1345-4270C>A MANE Select NP_071414.2:n.1345-4270C>A
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