Canonical Allele Identifier: CA2147070085
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1775747747
gnomAD v4: 14-74493478-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493478A>G , CM000676.2:g.74493478A>G GRCh38
NC_000014.8:g.74960181A>G , CM000676.1:g.74960181A>G GRCh37
NC_000014.7:g.74029934A>G NCBI36
NG_007117.1:g.4904T>C
NG_033074.1:g.4759A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+92T>C ENSP00000450887.1:n.-64+92T>C
ENST00000555619.5:c.-204T>C ENSP00000451112.1:n.-204T>C
ENST00000556009.5:c.147+553T>C
NM_001363688.1:c.-204T>C NP_001350617.1:n.-204T>C
NM_006432.4:c.-204T>C NP_006423.1:n.-204T>C
Search 100 bp 5'
Search 100 bp 3'