Canonical Allele Identifier: CA2625667606
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493587T>C , CM000676.2:g.74493587T>C GRCh38
NC_000014.8:g.74960290T>C , CM000676.1:g.74960290T>C GRCh37
NC_000014.7:g.74030043T>C NCBI36
NG_007117.1:g.4795A>G
NG_033074.1:g.4868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-81A>G ENSP00000450887.1:n.-81A>G
ENST00000556009.5:c.147+444A>G