Canonical Allele Identifier: CA964719299

Gene: NPC2

Linked Data

• dbSNP Id: rs2086800164

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493377dup , CM000676.2:g.74493377dup	GRCh38
NC_000014.8:g.74960080dup , CM000676.1:g.74960080dup	GRCh37
NC_000014.7:g.74029833dup	NCBI36
NG_007117.1:g.5006dup
NG_033074.1:g.4658dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-39dup	ENSP00000450887.1:n.-63-39dup
ENST00000555619.5:c.-102dup	ENSP00000451112.1:n.-102dup
ENST00000556009.5:c.147+655dup
NM_006432.3:c.-102dup	NP_006423.1:n.-102dup
NM_001363688.1:c.-102dup	NP_001350617.1:n.-102dup
NM_006432.4:c.-102dup	NP_006423.1:n.-102dup