Canonical Allele Identifier: CA2730027645
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs2139677108

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493564G>A , CM000676.2:g.74493564G>A GRCh38
NC_000014.8:g.74960267G>A , CM000676.1:g.74960267G>A GRCh37
NC_000014.7:g.74030020G>A NCBI36
NG_007117.1:g.4818C>T
NG_033074.1:g.4845G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+6C>T ENSP00000450887.1:n.-64+6C>T
ENST00000556009.5:c.147+467C>T