Canonical Allele Identifier: CA2147070139
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs545226346

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493558C>A , CM000676.2:g.74493558C>A GRCh38
NC_000014.8:g.74960261C>A , CM000676.1:g.74960261C>A GRCh37
NC_000014.7:g.74030014C>A NCBI36
NG_007117.1:g.4824G>T
NG_033074.1:g.4839C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+12G>T ENSP00000450887.1:n.-64+12G>T
ENST00000556009.5:c.147+473G>T