Canonical Allele Identifier: CA84592892
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs754659125
gnomAD v2: 3-140247196-GCA-G
gnomAD v3: 3-140528354-GCA-G
gnomAD v4: 3-140528354-GCA-G
MyVariant Identifiers: chr3:g.140247197_140247198del (hg19) chr3:g.140528355_140528356del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528358_140528359del , CM000665.2:g.140528358_140528359del GRCh38
NC_000003.11:g.140247200_140247201del , CM000665.1:g.140247200_140247201del GRCh37
NC_000003.10:g.141729890_141729891del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-3966_1345-3965del MANE Select ENSP00000402460.2:n.1345-3966_1345-3965del
ENST00000511524.1:n.1533-3966_1533-3965del
ENST00000620185.1:c.1153-3966_1153-3965del ENSP00000478883.1:n.1153-3966_1153-3965del
NM_022131.2:c.1345-3966_1345-3965del NP_071414.2:n.1345-3966_1345-3965del
XM_017007022.2:c.1270-3966_1270-3965del XP_016862511.1:n.1270-3966_1270-3965del
NM_022131.3:c.1345-3966_1345-3965del MANE Select NP_071414.2:n.1345-3966_1345-3965del
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