Canonical Allele Identifier: CA708507980
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1389023178
gnomAD v3: 14-74493588-G-C
gnomAD v4: 14-74493588-G-C
MyVariant Identifiers: chr14:g.74960291G>C (hg19) chr14:g.74493588G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493588G>C , CM000676.2:g.74493588G>C GRCh38
NC_000014.8:g.74960291G>C , CM000676.1:g.74960291G>C GRCh37
NC_000014.7:g.74030044G>C NCBI36
NG_007117.1:g.4794C>G
NG_033074.1:g.4869G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-82C>G ENSP00000450887.1:n.-82C>G
ENST00000556009.5:c.147+443C>G
Search 100 bp 5'
Search 100 bp 3'