Canonical Allele Identifier: CA84763899
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs369672625
gnomAD v2: 3-139681949-G-A
gnomAD v3: 3-139963107-G-A
gnomAD v4: 3-139963107-G-A
MyVariant Identifiers: chr3:g.139681949G>A (hg19) chr3:g.139963107G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139963107G>A , CM000665.2:g.139963107G>A GRCh38
NC_000003.11:g.139681949G>A , CM000665.1:g.139681949G>A GRCh37
NC_000003.10:g.141164639G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000458420.7:c.109+27624G>A MANE Select ENSP00000402460.2:n.109+27624G>A
ENST00000511524.1:n.297+27624G>A
NM_022131.2:c.109+27624G>A NP_071414.2:n.109+27624G>A
NM_022131.3:c.109+27624G>A MANE Select NP_071414.2:n.109+27624G>A
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