Canonical Allele Identifier: CA2625667274
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493408-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493408C>T , CM000676.2:g.74493408C>T GRCh38
NC_000014.8:g.74960111C>T , CM000676.1:g.74960111C>T GRCh37
NC_000014.7:g.74029864C>T NCBI36
NG_007117.1:g.4974G>A
NG_033074.1:g.4689C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-71G>A ENSP00000450887.1:n.-63-71G>A
ENST00000555619.5:c.-134G>A ENSP00000451112.1:n.-134G>A
ENST00000556009.5:c.147+623G>A
NM_001363688.1:c.-134G>A NP_001350617.1:n.-134G>A
NM_006432.4:c.-134G>A NP_006423.1:n.-134G>A
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