Canonical Allele Identifier: CA708507887

Gene: NPC2

Linked Data

• dbSNP Id: rs1252141917
• gnomAD v4: 14-74493516-C-T
• MyVariant Identifiers: chr14:g.74960219C>T (hg19) ; chr14:g.74493516C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493516C>T , CM000676.2:g.74493516C>T	GRCh38
NC_000014.8:g.74960219C>T , CM000676.1:g.74960219C>T	GRCh37
NC_000014.7:g.74029972C>T	NCBI36
NG_007117.1:g.4866G>A
NG_033074.1:g.4797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+54G>A	ENSP00000450887.1:n.-64+54G>A
ENST00000556009.5:c.147+515G>A