Canonical Allele Identifier: CA708507852
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1350129401
gnomAD v3: 14-74493483-A-G
gnomAD v4: 14-74493483-A-G
MyVariant Identifiers: chr14:g.74960186A>G (hg19) chr14:g.74493483A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493483A>G , CM000676.2:g.74493483A>G GRCh38
NC_000014.8:g.74960186A>G , CM000676.1:g.74960186A>G GRCh37
NC_000014.7:g.74029939A>G NCBI36
NG_007117.1:g.4899T>C
NG_033074.1:g.4764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+87T>C ENSP00000450887.1:n.-64+87T>C
ENST00000555619.5:c.-209T>C ENSP00000451112.1:n.-209T>C
ENST00000556009.5:c.147+548T>C
NM_001363688.1:c.-209T>C NP_001350617.1:n.-209T>C
NM_006432.4:c.-209T>C NP_006423.1:n.-209T>C
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