Canonical Allele Identifier: CA2625667552
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493565A>G , CM000676.2:g.74493565A>G GRCh38
NC_000014.8:g.74960268A>G , CM000676.1:g.74960268A>G GRCh37
NC_000014.7:g.74030021A>G NCBI36
NG_007117.1:g.4817T>C
NG_033074.1:g.4846A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+5T>C ENSP00000450887.1:n.-64+5T>C
ENST00000556009.5:c.147+466T>C