Canonical Allele Identifier: CA2625667418
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493516-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493516C>G , CM000676.2:g.74493516C>G GRCh38
NC_000014.8:g.74960219C>G , CM000676.1:g.74960219C>G GRCh37
NC_000014.7:g.74029972C>G NCBI36
NG_007117.1:g.4866G>C
NG_033074.1:g.4797C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+54G>C ENSP00000450887.1:n.-64+54G>C
ENST00000556009.5:c.147+515G>C
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