Canonical Allele Identifier: CA807794646
Gene: NSG2 HGNC NCBI

Linked Data

dbSNP Id: rs1308100625
gnomAD v3: 5-174221712-C-A
gnomAD v4: 5-174221712-C-A
MyVariant Identifiers: chr5:g.173648715C>A (hg19) chr5:g.174221712C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.174221712C>A , CM000667.2:g.174221712C>A GRCh38
NC_000005.9:g.173648715C>A , CM000667.1:g.173648715C>A GRCh37
NC_000005.8:g.173581321C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000521585.5:c.*18+16408C>A ENSP00000429863.1:n.*18+16408C>A
Search 100 bp 5'
Search 100 bp 3'