Canonical Allele Identifier: CA708507905
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1183712772
gnomAD v4: 14-74493517-T-C
MyVariant Identifiers: chr14:g.74960220T>C (hg19) chr14:g.74493517T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

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