Canonical Allele Identifier: CA2625667324
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493465-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493465G>A , CM000676.2:g.74493465G>A GRCh38
NC_000014.8:g.74960168G>A , CM000676.1:g.74960168G>A GRCh37
NC_000014.7:g.74029921G>A NCBI36
NG_007117.1:g.4917C>T
NG_033074.1:g.4746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+105C>T ENSP00000450887.1:n.-64+105C>T
ENST00000555619.5:c.-191C>T ENSP00000451112.1:n.-191C>T
ENST00000556009.5:c.147+566C>T
NM_001363688.1:c.-191C>T NP_001350617.1:n.-191C>T
NM_006432.4:c.-191C>T NP_006423.1:n.-191C>T
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