Canonical Allele Identifier: CA708507982

Gene: NPC2

Linked Data

• dbSNP Id: rs941996267
• MyVariant Identifiers: chr14:g.74960307C>A (hg19) ; chr14:g.74493604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493604C>A , CM000676.2:g.74493604C>A	GRCh38
NC_000014.8:g.74960307C>A , CM000676.1:g.74960307C>A	GRCh37
NC_000014.7:g.74030060C>A	NCBI36
NG_007117.1:g.4778G>T
NG_033074.1:g.4885C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-98G>T	ENSP00000450887.1:n.-98G>T
ENST00000556009.5:c.147+427G>T