Canonical Allele Identifier: CA263573356
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs563823512
gnomAD v3: 14-74493584-G-C
gnomAD v4: 14-74493584-G-C
MyVariant Identifiers: chr14:g.74960287G>C (hg19) chr14:g.74493584G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493584G>C , CM000676.2:g.74493584G>C GRCh38
NC_000014.8:g.74960287G>C , CM000676.1:g.74960287G>C GRCh37
NC_000014.7:g.74030040G>C NCBI36
NG_007117.1:g.4798C>G
NG_033074.1:g.4865G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-78C>G ENSP00000450887.1:n.-78C>G
ENST00000556009.5:c.147+447C>G
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