Canonical Allele Identifier: CA2625667549
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493563A>T , CM000676.2:g.74493563A>T GRCh38
NC_000014.8:g.74960266A>T , CM000676.1:g.74960266A>T GRCh37
NC_000014.7:g.74030019A>T NCBI36
NG_007117.1:g.4819T>A
NG_033074.1:g.4844A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+7T>A ENSP00000450887.1:n.-64+7T>A
ENST00000556009.5:c.147+468T>A