Canonical Allele Identifier: CA2625667311

Gene: NPC2

Linked Data

• gnomAD v4: 14-74493455-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493455C>A , CM000676.2:g.74493455C>A	GRCh38
NC_000014.8:g.74960158C>A , CM000676.1:g.74960158C>A	GRCh37
NC_000014.7:g.74029911C>A	NCBI36
NG_007117.1:g.4927G>T
NG_033074.1:g.4736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+115G>T	ENSP00000450887.1:n.-64+115G>T
ENST00000555619.5:c.-181G>T	ENSP00000451112.1:n.-181G>T
ENST00000556009.5:c.147+576G>T
NM_001363688.1:c.-181G>T	NP_001350617.1:n.-181G>T
NM_006432.4:c.-181G>T	NP_006423.1:n.-181G>T