Canonical Allele Identifier: CA2625667454
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493523-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493523C>T , CM000676.2:g.74493523C>T GRCh38
NC_000014.8:g.74960226C>T , CM000676.1:g.74960226C>T GRCh37
NC_000014.7:g.74029979C>T NCBI36
NG_007117.1:g.4859G>A
NG_033074.1:g.4804C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+47G>A ENSP00000450887.1:n.-64+47G>A
ENST00000556009.5:c.147+508G>A
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