Canonical Allele Identifier: CA2575576680
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493408C>A , CM000676.2:g.74493408C>A GRCh38
NC_000014.8:g.74960111C>A , CM000676.1:g.74960111C>A GRCh37
NC_000014.7:g.74029864C>A NCBI36
NG_007117.1:g.4974G>T
NG_033074.1:g.4689C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-71G>T ENSP00000450887.1:n.-63-71G>T
ENST00000555619.5:c.-134G>T ENSP00000451112.1:n.-134G>T
ENST00000556009.5:c.147+623G>T
NM_001363688.1:c.-134G>T NP_001350617.1:n.-134G>T
NM_006432.4:c.-134G>T NP_006423.1:n.-134G>T