Canonical Allele Identifier: CA84763950
Gene: CLSTN2 HGNC NCBI

Linked Data

dbSNP Id: rs748002735
gnomAD v2: 3-139681991-G-T
gnomAD v3: 3-139963149-G-T
gnomAD v4: 3-139963149-G-T
MyVariant Identifiers: chr3:g.139681991G>T (hg19) chr3:g.139963149G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.139963149G>T , CM000665.2:g.139963149G>T GRCh38
NC_000003.11:g.139681991G>T , CM000665.1:g.139681991G>T GRCh37
NC_000003.10:g.141164681G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000458420.7:c.109+27666G>T MANE Select ENSP00000402460.2:n.109+27666G>T
ENST00000511524.1:n.297+27666G>T
NM_022131.2:c.109+27666G>T NP_071414.2:n.109+27666G>T
NM_022131.3:c.109+27666G>T MANE Select NP_071414.2:n.109+27666G>T
Search 100 bp 5'
Search 100 bp 3'