Allele Registry

Canonical Allele Identifier: CA48236555

Gene: NRXN1-DT HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr2:g.51732120T>C

GRCh37 chr2:g.51959258T>C

Linked Data - Sequence & Population

gnomAD v2:

2:51959258 T / C

gnomAD v3:

2:51732120 T / C

gnomAD v4:

chr2-51732120-T-C

Joint Max Group AF 0.7159975 (NFE)

Genomes Max Group AF 0.7159975 (NFE)

Linked Data - NCBI & NCI

dbSNP:

1533428

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.51732120T>C , CM000664.2:g.51732120T>C	GRCh38
NC_000002.11:g.51959258T>C , CM000664.1:g.51959258T>C	GRCh37
NC_000002.10:g.51812762T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_245003.1:n.754-29969T>C
NR_135237.1:n.754-29969T>C

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