Canonical Allele Identifier: CA2625667570
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493574C>A , CM000676.2:g.74493574C>A GRCh38
NC_000014.8:g.74960277C>A , CM000676.1:g.74960277C>A GRCh37
NC_000014.7:g.74030030C>A NCBI36
NG_007117.1:g.4808G>T
NG_033074.1:g.4855C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-68G>T ENSP00000450887.1:n.-68G>T
ENST00000556009.5:c.147+457G>T