Canonical Allele Identifier: CA2625667249

Gene: NPC2

Linked Data

• gnomAD v4: 14-74493362-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493362G>A , CM000676.2:g.74493362G>A	GRCh38
NC_000014.8:g.74960065G>A , CM000676.1:g.74960065G>A	GRCh37
NC_000014.7:g.74029818G>A	NCBI36
NG_007117.1:g.5020C>T
NG_033074.1:g.4643G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-63-25C>T	ENSP00000450887.1:n.-63-25C>T
ENST00000555619.5:c.-88C>T	ENSP00000451112.1:n.-88C>T
ENST00000556009.5:c.147+669C>T
NM_006432.3:c.-88C>T	NP_006423.1:n.-88C>T
NM_001363688.1:c.-88C>T	NP_001350617.1:n.-88C>T
NM_006432.4:c.-88C>T	NP_006423.1:n.-88C>T