Canonical Allele Identifier: CA964719399

Gene: NPC2

Linked Data

• dbSNP Id: rs2139676969
• gnomAD v3: 14-74493514-A-C
• gnomAD v4: 14-74493514-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.74493514A>C , CM000676.2:g.74493514A>C	GRCh38
NC_000014.8:g.74960217A>C , CM000676.1:g.74960217A>C	GRCh37
NC_000014.7:g.74029970A>C	NCBI36
NG_007117.1:g.4868T>G
NG_033074.1:g.4795A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555592.1:c.-64+56T>G	ENSP00000450887.1:n.-64+56T>G
ENST00000556009.5:c.147+517T>G