Canonical Allele Identifier: CA964719478

Gene: NPC2

Linked Data

• gnomAD v3: 14-74493550-G-C
• gnomAD v4: 14-74493550-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493550G>C , CM000676.2:g.74493550G>C	GRCh38
NC_000014.8:g.74960253G>C , CM000676.1:g.74960253G>C	GRCh37
NC_000014.7:g.74030006G>C	NCBI36
NG_007117.1:g.4832C>G
NG_033074.1:g.4831G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+20C>G	ENSP00000450887.1:n.-64+20C>G
ENST00000556009.5:c.147+481C>G