Canonical Allele Identifier: CA2147070049

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493405G= , CM000676.2:g.74493405G=	GRCh38
NC_000014.8:g.74960108G= , CM000676.1:g.74960108G=	GRCh37
NC_000014.7:g.74029861G=	NCBI36
NG_007117.1:g.4977C=
NG_033074.1:g.4686G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-68C=	ENSP00000450887.1:n.-63-68C=
ENST00000555619.5:c.-131C=	ENSP00000451112.1:n.-131C=
ENST00000556009.5:c.147+626C=
NM_001363688.1:c.-131C=	NP_001350617.1:n.-131C=
NM_006432.4:c.-131C=	NP_006423.1:n.-131C=