Canonical Allele Identifier: CA708507913

Gene: NPC2

Linked Data

• dbSNP Id: rs1289290410
• gnomAD v3: 14-74493540-T-C
• gnomAD v4: 14-74493540-T-C
• MyVariant Identifiers: chr14:g.74960243T>C (hg19) ; chr14:g.74493540T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493540T>C , CM000676.2:g.74493540T>C	GRCh38
NC_000014.8:g.74960243T>C , CM000676.1:g.74960243T>C	GRCh37
NC_000014.7:g.74029996T>C	NCBI36
NG_007117.1:g.4842A>G
NG_033074.1:g.4821T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+30A>G	ENSP00000450887.1:n.-64+30A>G
ENST00000556009.5:c.147+491A>G