Canonical Allele Identifier: CA263573344

Gene: NPC2

Linked Data

• dbSNP Id: rs545226346
• gnomAD v3: 14-74493558-C-G
• gnomAD v4: 14-74493558-C-G
• MyVariant Identifiers: chr14:g.74960261C>G (hg19) ; chr14:g.74493558C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493558C>G , CM000676.2:g.74493558C>G	GRCh38
NC_000014.8:g.74960261C>G , CM000676.1:g.74960261C>G	GRCh37
NC_000014.7:g.74030014C>G	NCBI36
NG_007117.1:g.4824G>C
NG_033074.1:g.4839C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+12G>C	ENSP00000450887.1:n.-64+12G>C
ENST00000556009.5:c.147+473G>C