Canonical Allele Identifier: CA708507939

Gene: NPC2

Linked Data

• dbSNP Id: rs931794005
• MyVariant Identifiers: chr14:g.74960263T>A (hg19) ; chr14:g.74493560T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493560T>A , CM000676.2:g.74493560T>A	GRCh38
NC_000014.8:g.74960263T>A , CM000676.1:g.74960263T>A	GRCh37
NC_000014.7:g.74030016T>A	NCBI36
NG_007117.1:g.4822A>T
NG_033074.1:g.4841T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+10A>T	ENSP00000450887.1:n.-64+10A>T
ENST00000556009.5:c.147+471A>T