Canonical Allele Identifier: CA708507911

Gene: NPC2

Linked Data

• dbSNP Id: rs1328708800
• gnomAD v3: 14-74493533-T-C
• gnomAD v4: 14-74493533-T-C
• MyVariant Identifiers: chr14:g.74960236T>C (hg19) ; chr14:g.74493533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493533T>C , CM000676.2:g.74493533T>C	GRCh38
NC_000014.8:g.74960236T>C , CM000676.1:g.74960236T>C	GRCh37
NC_000014.7:g.74029989T>C	NCBI36
NG_007117.1:g.4849A>G
NG_033074.1:g.4814T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+37A>G	ENSP00000450887.1:n.-64+37A>G
ENST00000556009.5:c.147+498A>G