Canonical Allele Identifier: CA263573326
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs775671234
gnomAD v3: 14-74493485-C-T
gnomAD v4: 14-74493485-C-T
MyVariant Identifiers: chr14:g.74960188C>T (hg19) chr14:g.74493485C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493485C>T , CM000676.2:g.74493485C>T GRCh38
NC_000014.8:g.74960188C>T , CM000676.1:g.74960188C>T GRCh37
NC_000014.7:g.74029941C>T NCBI36
NG_007117.1:g.4897G>A
NG_033074.1:g.4766C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+85G>A ENSP00000450887.1:n.-64+85G>A
ENST00000555619.5:c.-211G>A ENSP00000451112.1:n.-211G>A
ENST00000556009.5:c.147+546G>A
NM_001363688.1:c.-211G>A NP_001350617.1:n.-211G>A
NM_006432.4:c.-211G>A NP_006423.1:n.-211G>A
Search 100 bp 5'
Search 100 bp 3'