Canonical Allele Identifier: CA615021912

Gene: NPC2

Linked Data

• dbSNP Id: rs1309188132
• gnomAD v2: 14-74960266-A-G
• gnomAD v4: 14-74493563-A-G
• MyVariant Identifiers: chr14:g.74960266A>G (hg19) ; chr14:g.74493563A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493563A>G , CM000676.2:g.74493563A>G	GRCh38
NC_000014.8:g.74960266A>G , CM000676.1:g.74960266A>G	GRCh37
NC_000014.7:g.74030019A>G	NCBI36
NG_007117.1:g.4819T>C
NG_033074.1:g.4844A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+7T>C	ENSP00000450887.1:n.-64+7T>C
ENST00000556009.5:c.147+468T>C