Canonical Allele Identifier: CA2625667584
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493582C>A , CM000676.2:g.74493582C>A GRCh38
NC_000014.8:g.74960285C>A , CM000676.1:g.74960285C>A GRCh37
NC_000014.7:g.74030038C>A NCBI36
NG_007117.1:g.4800G>T
NG_033074.1:g.4863C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-76G>T ENSP00000450887.1:n.-76G>T
ENST00000556009.5:c.147+449G>T