Canonical Allele Identifier: CA546538315
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs1343969725
gnomAD v2: 3-140247194-T-C
gnomAD v3: 3-140528352-T-C
gnomAD v4: 3-140528352-T-C
MyVariant Identifiers: chr3:g.140247194T>C (hg19) chr3:g.140528352T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528352T>C , CM000665.2:g.140528352T>C GRCh38
NC_000003.11:g.140247194T>C , CM000665.1:g.140247194T>C GRCh37
NC_000003.10:g.141729884T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-3972T>C MANE Select ENSP00000402460.2:n.1345-3972T>C
ENST00000511524.1:n.1533-3972T>C
ENST00000620185.1:c.1153-3972T>C ENSP00000478883.1:n.1153-3972T>C
NM_022131.2:c.1345-3972T>C NP_071414.2:n.1345-3972T>C
XM_017007022.2:c.1270-3972T>C XP_016862511.1:n.1270-3972T>C
NM_022131.3:c.1345-3972T>C MANE Select NP_071414.2:n.1345-3972T>C
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