Canonical Allele Identifier: CA2570752530
Gene: CLSTN2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139963160C>A , CM000665.2:g.139963160C>A GRCh38
NC_000003.11:g.139682002C>A , CM000665.1:g.139682002C>A GRCh37
NC_000003.10:g.141164692C>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000458420.7:c.109+27677C>A MANE Select ENSP00000402460.2:n.109+27677C>A
ENST00000511524.1:n.297+27677C>A
NM_022131.2:c.109+27677C>A NP_071414.2:n.109+27677C>A
NM_022131.3:c.109+27677C>A MANE Select NP_071414.2:n.109+27677C>A
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