Canonical Allele Identifier: CA899761498
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs1242982372
gnomAD v3: 3-140528109-TA-T
gnomAD v4: 3-140528109-TA-T
MyVariant Identifiers: chr3:g.140246952del (hg19) chr3:g.140528110del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528111del , CM000665.2:g.140528111del GRCh38
NC_000003.11:g.140246953del , CM000665.1:g.140246953del GRCh37
NC_000003.10:g.141729643del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-4213del MANE Select ENSP00000402460.2:n.1345-4213del
ENST00000511524.1:n.1533-4213del
ENST00000620185.1:c.1153-4213del ENSP00000478883.1:n.1153-4213del
NM_022131.2:c.1345-4213del NP_071414.2:n.1345-4213del
XM_017007022.2:c.1270-4213del XP_016862511.1:n.1270-4213del
NM_022131.3:c.1345-4213del MANE Select NP_071414.2:n.1345-4213del
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