Canonical Allele Identifier: CA2147070143
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs931794005

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493560T>G , CM000676.2:g.74493560T>G GRCh38
NC_000014.8:g.74960263T>G , CM000676.1:g.74960263T>G GRCh37
NC_000014.7:g.74030016T>G NCBI36
NG_007117.1:g.4822A>C
NG_033074.1:g.4841T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+10A>C ENSP00000450887.1:n.-64+10A>C
ENST00000556009.5:c.147+471A>C