Canonical Allele Identifier: CA2147070033
Gene: NPC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493378T= , CM000676.2:g.74493378T= GRCh38
NC_000014.8:g.74960081T= , CM000676.1:g.74960081T= GRCh37
NC_000014.7:g.74029834T= NCBI36
NG_007117.1:g.5004A=
NG_033074.1:g.4659T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-41A= ENSP00000450887.1:n.-63-41A=
ENST00000555619.5:c.-104A= ENSP00000451112.1:n.-104A=
ENST00000556009.5:c.147+653A=
NM_006432.3:c.-104A= NP_006423.1:n.-104A=
NM_001363688.1:c.-104A= NP_001350617.1:n.-104A=
NM_006432.4:c.-104A= NP_006423.1:n.-104A=
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