Canonical Allele Identifier: CA964719409
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs2086802624
gnomAD v3: 14-74493520-G-GCCCCGCCCCGCCTCACTCCT
gnomAD v4: 14-74493520-G-GCCCCGCCCCGCCTCACTCCT
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493531_74493550dup , CM000676.2:g.74493531_74493550dup GRCh38
NC_000014.8:g.74960234_74960253dup , CM000676.1:g.74960234_74960253dup GRCh37
NC_000014.7:g.74029987_74030006dup NCBI36
NG_007117.1:g.4842_4861dup
NG_033074.1:g.4812_4831dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+30_-64+49dup ENSP00000450887.1:n.-64+30_-64+49dup
ENST00000556009.5:c.147+491_147+510dup
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