Canonical Allele Identifier: CA2625667643
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493603C>T , CM000676.2:g.74493603C>T GRCh38
NC_000014.8:g.74960306C>T , CM000676.1:g.74960306C>T GRCh37
NC_000014.7:g.74030059C>T NCBI36
NG_007117.1:g.4779G>A
NG_033074.1:g.4884C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-97G>A ENSP00000450887.1:n.-97G>A
ENST00000556009.5:c.147+428G>A