Canonical Allele Identifier: CA2147070073
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs2086801517
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493457A>C , CM000676.2:g.74493457A>C GRCh38
NC_000014.8:g.74960160A>C , CM000676.1:g.74960160A>C GRCh37
NC_000014.7:g.74029913A>C NCBI36
NG_007117.1:g.4925T>G
NG_033074.1:g.4738A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+113T>G ENSP00000450887.1:n.-64+113T>G
ENST00000555619.5:c.-183T>G ENSP00000451112.1:n.-183T>G
ENST00000556009.5:c.147+574T>G
NM_001363688.1:c.-183T>G NP_001350617.1:n.-183T>G
NM_006432.4:c.-183T>G NP_006423.1:n.-183T>G
Search 100 bp 5'
Search 100 bp 3'