Canonical Allele Identifier: CA2147070146
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs1309188132
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493563A>C , CM000676.2:g.74493563A>C GRCh38
NC_000014.8:g.74960266A>C , CM000676.1:g.74960266A>C GRCh37
NC_000014.7:g.74030019A>C NCBI36
NG_007117.1:g.4819T>G
NG_033074.1:g.4844A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+7T>G ENSP00000450887.1:n.-64+7T>G
ENST00000556009.5:c.147+468T>G
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