Canonical Allele Identifier: CA708507961
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1207208210
gnomAD v3: 14-74493573-T-G
gnomAD v4: 14-74493573-T-G
MyVariant Identifiers: chr14:g.74960276T>G (hg19) chr14:g.74493573T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493573T>G , CM000676.2:g.74493573T>G GRCh38
NC_000014.8:g.74960276T>G , CM000676.1:g.74960276T>G GRCh37
NC_000014.7:g.74030029T>G NCBI36
NG_007117.1:g.4809A>C
NG_033074.1:g.4854T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-67A>C ENSP00000450887.1:n.-67A>C
ENST00000556009.5:c.147+458A>C
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