Canonical Allele Identifier: CA2147070083
Gene: NPC2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493477C= , CM000676.2:g.74493477C= GRCh38
NC_000014.8:g.74960180C= , CM000676.1:g.74960180C= GRCh37
NC_000014.7:g.74029933C= NCBI36
NG_007117.1:g.4905G=
NG_033074.1:g.4758C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+93G= ENSP00000450887.1:n.-64+93G=
ENST00000555619.5:c.-203G= ENSP00000451112.1:n.-203G=
ENST00000556009.5:c.147+554G=
NM_001363688.1:c.-203G= NP_001350617.1:n.-203G=
NM_006432.4:c.-203G= NP_006423.1:n.-203G=