Canonical Allele Identifier: CA2147070170

Gene: NPC2

Linked Data

• dbSNP Id: rs1253840733
• gnomAD v4: 14-74493601-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493601T>G , CM000676.2:g.74493601T>G	GRCh38
NC_000014.8:g.74960304T>G , CM000676.1:g.74960304T>G	GRCh37
NC_000014.7:g.74030057T>G	NCBI36
NG_007117.1:g.4781A>C
NG_033074.1:g.4882T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-95A>C	ENSP00000450887.1:n.-95A>C
ENST00000556009.5:c.147+430A>C