Canonical Allele Identifier: CA263573353
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs987549580
gnomAD v3: 14-74493575-C-A
gnomAD v4: 14-74493575-C-A
MyVariant Identifiers: chr14:g.74960278C>A (hg19) chr14:g.74493575C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493575C>A , CM000676.2:g.74493575C>A GRCh38
NC_000014.8:g.74960278C>A , CM000676.1:g.74960278C>A GRCh37
NC_000014.7:g.74030031C>A NCBI36
NG_007117.1:g.4807G>T
NG_033074.1:g.4856C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-69G>T ENSP00000450887.1:n.-69G>T
ENST00000556009.5:c.147+456G>T
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