Canonical Allele Identifier: CA263573331
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs958324697
gnomAD v3: 14-74493502-C-A
gnomAD v4: 14-74493502-C-A
MyVariant Identifiers: chr14:g.74960205C>A (hg19) chr14:g.74493502C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493502C>A , CM000676.2:g.74493502C>A GRCh38
NC_000014.8:g.74960205C>A , CM000676.1:g.74960205C>A GRCh37
NC_000014.7:g.74029958C>A NCBI36
NG_007117.1:g.4880G>T
NG_033074.1:g.4783C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+68G>T ENSP00000450887.1:n.-64+68G>T
ENST00000555619.5:c.-228G>T ENSP00000451112.1:n.-228G>T
ENST00000556009.5:c.147+529G>T
NM_001363688.1:c.-228G>T NP_001350617.1:n.-228G>T
NM_006432.4:c.-228G>T NP_006423.1:n.-228G>T
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