Canonical Allele Identifier: CA2575576685

Gene: NPC2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493425T>A , CM000676.2:g.74493425T>A	GRCh38
NC_000014.8:g.74960128T>A , CM000676.1:g.74960128T>A	GRCh37
NC_000014.7:g.74029881T>A	NCBI36
NG_007117.1:g.4957A>T
NG_033074.1:g.4706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-88A>T	ENSP00000450887.1:n.-63-88A>T
ENST00000555619.5:c.-151A>T	ENSP00000451112.1:n.-151A>T
ENST00000556009.5:c.147+606A>T
NM_001363688.1:c.-151A>T	NP_001350617.1:n.-151A>T
NM_006432.4:c.-151A>T	NP_006423.1:n.-151A>T