Canonical Allele Identifier: CA263573358

Gene: NPC2

Linked Data

• dbSNP Id: rs985934103
• gnomAD v3: 14-74493585-G-A
• gnomAD v4: 14-74493585-G-A
• MyVariant Identifiers: chr14:g.74960288G>A (hg19) ; chr14:g.74493585G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493585G>A , CM000676.2:g.74493585G>A	GRCh38
NC_000014.8:g.74960288G>A , CM000676.1:g.74960288G>A	GRCh37
NC_000014.7:g.74030041G>A	NCBI36
NG_007117.1:g.4797C>T
NG_033074.1:g.4866G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-79C>T	ENSP00000450887.1:n.-79C>T
ENST00000556009.5:c.147+446C>T