Canonical Allele Identifier: CA2625667415

Gene: NPC2

Linked Data

• gnomAD v4: 14-74493513-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493513C>A , CM000676.2:g.74493513C>A	GRCh38
NC_000014.8:g.74960216C>A , CM000676.1:g.74960216C>A	GRCh37
NC_000014.7:g.74029969C>A	NCBI36
NG_007117.1:g.4869G>T
NG_033074.1:g.4794C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+57G>T	ENSP00000450887.1:n.-64+57G>T
ENST00000556009.5:c.147+518G>T