Canonical Allele Identifier: CA546746688
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs1009327124
gnomAD v2: 3-139681977-C-G
gnomAD v3: 3-139963135-C-G
gnomAD v4: 3-139963135-C-G
MyVariant Identifiers: chr3:g.139681977C>G (hg19) chr3:g.139963135C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139963135C>G , CM000665.2:g.139963135C>G GRCh38
NC_000003.11:g.139681977C>G , CM000665.1:g.139681977C>G GRCh37
NC_000003.10:g.141164667C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000458420.7:c.109+27652C>G MANE Select ENSP00000402460.2:n.109+27652C>G
ENST00000511524.1:n.297+27652C>G
NM_022131.2:c.109+27652C>G NP_071414.2:n.109+27652C>G
NM_022131.3:c.109+27652C>G MANE Select NP_071414.2:n.109+27652C>G
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