Canonical Allele Identifier: CA84592729
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs983445228
gnomAD v2: 3-140246998-G-A
gnomAD v3: 3-140528156-G-A
gnomAD v4: 3-140528156-G-A
MyVariant Identifiers: chr3:g.140246998G>A (hg19) chr3:g.140528156G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.140528156G>A , CM000665.2:g.140528156G>A GRCh38
NC_000003.11:g.140246998G>A , CM000665.1:g.140246998G>A GRCh37
NC_000003.10:g.141729688G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000458420.7:c.1345-4168G>A MANE Select ENSP00000402460.2:n.1345-4168G>A
ENST00000511524.1:n.1533-4168G>A
ENST00000620185.1:c.1153-4168G>A ENSP00000478883.1:n.1153-4168G>A
NM_022131.2:c.1345-4168G>A NP_071414.2:n.1345-4168G>A
XM_017007022.2:c.1270-4168G>A XP_016862511.1:n.1270-4168G>A
NM_022131.3:c.1345-4168G>A MANE Select NP_071414.2:n.1345-4168G>A
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