Canonical Allele Identifier: CA2625667462
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493525G>T , CM000676.2:g.74493525G>T GRCh38
NC_000014.8:g.74960228G>T , CM000676.1:g.74960228G>T GRCh37
NC_000014.7:g.74029981G>T NCBI36
NG_007117.1:g.4857C>A
NG_033074.1:g.4806G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+45C>A ENSP00000450887.1:n.-64+45C>A
ENST00000556009.5:c.147+506C>A