Canonical Allele Identifier: CA263573352

Gene: NPC2

Linked Data

• dbSNP Id: rs954620963
• gnomAD v2: 14-74960277-CCGG-C
• gnomAD v3: 14-74493574-CCGG-C
• gnomAD v4: 14-74493574-CCGG-C
• MyVariant Identifiers: chr14:g.74960278_74960280del (hg19) ; chr14:g.74493575_74493577del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493576_74493578del , CM000676.2:g.74493576_74493578del	GRCh38
NC_000014.8:g.74960279_74960281del , CM000676.1:g.74960279_74960281del	GRCh37
NC_000014.7:g.74030032_74030034del	NCBI36
NG_007117.1:g.4805_4807del
NG_033074.1:g.4857_4859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-71_-69del	ENSP00000450887.1:n.-71_-69del
ENST00000556009.5:c.147+454_147+456del