Canonical Allele Identifier: CA708507836
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1274678853
gnomAD v4: 14-74493428-G-A
MyVariant Identifiers: chr14:g.74960131G>A (hg19) chr14:g.74493428G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493428G>A , CM000676.2:g.74493428G>A GRCh38
NC_000014.8:g.74960131G>A , CM000676.1:g.74960131G>A GRCh37
NC_000014.7:g.74029884G>A NCBI36
NG_007117.1:g.4954C>T
NG_033074.1:g.4709G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-91C>T ENSP00000450887.1:n.-63-91C>T
ENST00000555619.5:c.-154C>T ENSP00000451112.1:n.-154C>T
ENST00000556009.5:c.147+603C>T
NM_001363688.1:c.-154C>T NP_001350617.1:n.-154C>T
NM_006432.4:c.-154C>T NP_006423.1:n.-154C>T
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