Canonical Allele Identifier: CA2625667287
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493433G>T , CM000676.2:g.74493433G>T GRCh38
NC_000014.8:g.74960136G>T , CM000676.1:g.74960136G>T GRCh37
NC_000014.7:g.74029889G>T NCBI36
NG_007117.1:g.4949C>A
NG_033074.1:g.4714G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-96C>A ENSP00000450887.1:n.-63-96C>A
ENST00000555619.5:c.-159C>A ENSP00000451112.1:n.-159C>A
ENST00000556009.5:c.147+598C>A
NM_001363688.1:c.-159C>A NP_001350617.1:n.-159C>A
NM_006432.4:c.-159C>A NP_006423.1:n.-159C>A