Canonical Allele Identifier: CA708507845
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1228095699
gnomAD v3: 14-74493458-G-C
gnomAD v4: 14-74493458-G-C
MyVariant Identifiers: chr14:g.74960161G>C (hg19) chr14:g.74493458G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493458G>C , CM000676.2:g.74493458G>C GRCh38
NC_000014.8:g.74960161G>C , CM000676.1:g.74960161G>C GRCh37
NC_000014.7:g.74029914G>C NCBI36
NG_007117.1:g.4924C>G
NG_033074.1:g.4739G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+112C>G ENSP00000450887.1:n.-64+112C>G
ENST00000555619.5:c.-184C>G ENSP00000451112.1:n.-184C>G
ENST00000556009.5:c.147+573C>G
NM_001363688.1:c.-184C>G NP_001350617.1:n.-184C>G
NM_006432.4:c.-184C>G NP_006423.1:n.-184C>G
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