Canonical Allele Identifier: CA2147070065

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493436A= , CM000676.2:g.74493436A=	GRCh38
NC_000014.8:g.74960139A= , CM000676.1:g.74960139A=	GRCh37
NC_000014.7:g.74029892A=	NCBI36
NG_007117.1:g.4946T=
NG_033074.1:g.4717A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-99T=	ENSP00000450887.1:n.-63-99T=
ENST00000555619.5:c.-162T=	ENSP00000451112.1:n.-162T=
ENST00000556009.5:c.147+595T=
NM_001363688.1:c.-162T=	NP_001350617.1:n.-162T=
NM_006432.4:c.-162T=	NP_006423.1:n.-162T=