Canonical Allele Identifier: CA2625667561
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493568A>C , CM000676.2:g.74493568A>C GRCh38
NC_000014.8:g.74960271A>C , CM000676.1:g.74960271A>C GRCh37
NC_000014.7:g.74030024A>C NCBI36
NG_007117.1:g.4814T>G
NG_033074.1:g.4849A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+2T>G ENSP00000450887.1:n.-64+2T>G
ENST00000556009.5:c.147+463T>G