Canonical Allele Identifier: CA2147070072

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493457A= , CM000676.2:g.74493457A=	GRCh38
NC_000014.8:g.74960160A= , CM000676.1:g.74960160A=	GRCh37
NC_000014.7:g.74029913A=	NCBI36
NG_007117.1:g.4925T=
NG_033074.1:g.4738A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+113T=	ENSP00000450887.1:n.-64+113T=
ENST00000555619.5:c.-183T=	ENSP00000451112.1:n.-183T=
ENST00000556009.5:c.147+574T=
NM_001363688.1:c.-183T=	NP_001350617.1:n.-183T=
NM_006432.4:c.-183T=	NP_006423.1:n.-183T=