Canonical Allele Identifier: CA2625667320
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493462-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493462C>A , CM000676.2:g.74493462C>A GRCh38
NC_000014.8:g.74960165C>A , CM000676.1:g.74960165C>A GRCh37
NC_000014.7:g.74029918C>A NCBI36
NG_007117.1:g.4920G>T
NG_033074.1:g.4743C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+108G>T ENSP00000450887.1:n.-64+108G>T
ENST00000555619.5:c.-188G>T ENSP00000451112.1:n.-188G>T
ENST00000556009.5:c.147+569G>T
NM_001363688.1:c.-188G>T NP_001350617.1:n.-188G>T
NM_006432.4:c.-188G>T NP_006423.1:n.-188G>T
Search 100 bp 5'
Search 100 bp 3'