Canonical Allele Identifier: CA2625667582
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493580T>C , CM000676.2:g.74493580T>C GRCh38
NC_000014.8:g.74960283T>C , CM000676.1:g.74960283T>C GRCh37
NC_000014.7:g.74030036T>C NCBI36
NG_007117.1:g.4802A>G
NG_033074.1:g.4861T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-74A>G ENSP00000450887.1:n.-74A>G
ENST00000556009.5:c.147+451A>G