Canonical Allele Identifier: CA48253096
Gene: NRXN1-DT HGNC NCBI

Linked Data

dbSNP Id: rs771141283
gnomAD v2: 2-52072566-G-A
gnomAD v3: 2-51845428-G-A
gnomAD v4: 2-51845428-G-A
COSMIC: COSN19583241
MyVariant Identifiers: chr2:g.52072566G>A (hg19) chr2:g.51845428G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.51845428G>A , CM000664.2:g.51845428G>A GRCh38
NC_000002.11:g.52072566G>A , CM000664.1:g.52072566G>A GRCh37
NC_000002.10:g.51926070G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_245003.1:n.840-16021G>A
NR_135237.1:n.840-16021G>A
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