Canonical Allele Identifier: CA964719308
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs2086800411
gnomAD v3: 14-74493382-A-T
gnomAD v4: 14-74493382-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493382A>T , CM000676.2:g.74493382A>T GRCh38
NC_000014.8:g.74960085A>T , CM000676.1:g.74960085A>T GRCh37
NC_000014.7:g.74029838A>T NCBI36
NG_007117.1:g.5000T>A
NG_033074.1:g.4663A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-45T>A ENSP00000450887.1:n.-63-45T>A
ENST00000555619.5:c.-108T>A ENSP00000451112.1:n.-108T>A
ENST00000556009.5:c.147+649T>A
NM_001363688.1:c.-108T>A NP_001350617.1:n.-108T>A
NM_006432.4:c.-108T>A NP_006423.1:n.-108T>A
Search 100 bp 5'
Search 100 bp 3'