Canonical Allele Identifier: CA2147070019
Gene: NPC2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493363C= , CM000676.2:g.74493363C= GRCh38
NC_000014.8:g.74960066C= , CM000676.1:g.74960066C= GRCh37
NC_000014.7:g.74029819C= NCBI36
NG_007117.1:g.5019G=
NG_033074.1:g.4644C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-26G= ENSP00000450887.1:n.-63-26G=
ENST00000555619.5:c.-89G= ENSP00000451112.1:n.-89G=
ENST00000556009.5:c.147+668G=
NM_006432.3:c.-89G= NP_006423.1:n.-89G=
NM_001363688.1:c.-89G= NP_001350617.1:n.-89G=
NM_006432.4:c.-89G= NP_006423.1:n.-89G=
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