Canonical Allele Identifier: CA263573342
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1005601150
gnomAD v2: 14-74960252-C-T
gnomAD v3: 14-74493549-C-T
gnomAD v4: 14-74493549-C-T
MyVariant Identifiers: chr14:g.74960252C>T (hg19) chr14:g.74493549C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493549C>T , CM000676.2:g.74493549C>T GRCh38
NC_000014.8:g.74960252C>T , CM000676.1:g.74960252C>T GRCh37
NC_000014.7:g.74030005C>T NCBI36
NG_007117.1:g.4833G>A
NG_033074.1:g.4830C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+21G>A ENSP00000450887.1:n.-64+21G>A
ENST00000556009.5:c.147+482G>A
Search 100 bp 5'
Search 100 bp 3'