Canonical Allele Identifier: CA263573347
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs931794005
MyVariant Identifiers: chr14:g.74493560T>C (hg38)

Genomic Alleles

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

Transcript Alleles

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