Canonical Allele Identifier: CA964719402
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1183712772
gnomAD v3: 14-74493517-T-A
gnomAD v4: 14-74493517-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493517T>A , CM000676.2:g.74493517T>A GRCh38
NC_000014.8:g.74960220T>A , CM000676.1:g.74960220T>A GRCh37
NC_000014.7:g.74029973T>A NCBI36
NG_007117.1:g.4865A>T
NG_033074.1:g.4798T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+53A>T ENSP00000450887.1:n.-64+53A>T
ENST00000556009.5:c.147+514A>T
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