Canonical Allele Identifier: CA2625667281
Gene: NPC2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493421C>T , CM000676.2:g.74493421C>T GRCh38
NC_000014.8:g.74960124C>T , CM000676.1:g.74960124C>T GRCh37
NC_000014.7:g.74029877C>T NCBI36
NG_007117.1:g.4961G>A
NG_033074.1:g.4702C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-84G>A ENSP00000450887.1:n.-63-84G>A
ENST00000555619.5:c.-147G>A ENSP00000451112.1:n.-147G>A
ENST00000556009.5:c.147+610G>A
NM_001363688.1:c.-147G>A NP_001350617.1:n.-147G>A
NM_006432.4:c.-147G>A NP_006423.1:n.-147G>A