Canonical Allele Identifier: CA263573359
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs568299068
gnomAD v2: 14-74960293-GT-G
gnomAD v3: 14-74493590-GT-G
gnomAD v4: 14-74493590-GT-G
MyVariant Identifiers: chr14:g.74960294del (hg19) chr14:g.74493591del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493591del , CM000676.2:g.74493591del GRCh38
NC_000014.8:g.74960294del , CM000676.1:g.74960294del GRCh37
NC_000014.7:g.74030047del NCBI36
NG_007117.1:g.4791del
NG_033074.1:g.4872del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-85del ENSP00000450887.1:n.-85del
ENST00000556009.5:c.147+440del
Search 100 bp 5'
Search 100 bp 3'