Canonical Allele Identifier: CA2625667622
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493594-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493594C>G , CM000676.2:g.74493594C>G GRCh38
NC_000014.8:g.74960297C>G , CM000676.1:g.74960297C>G GRCh37
NC_000014.7:g.74030050C>G NCBI36
NG_007117.1:g.4788G>C
NG_033074.1:g.4875C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-88G>C ENSP00000450887.1:n.-88G>C
ENST00000556009.5:c.147+437G>C
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