Canonical Allele Identifier: CA2625667387
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493500-A-ACCCGCCCGGACCCACCTCCGC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493508_74493528dup , CM000676.2:g.74493508_74493528dup GRCh38
NC_000014.8:g.74960211_74960231dup , CM000676.1:g.74960211_74960231dup GRCh37
NC_000014.7:g.74029964_74029984dup NCBI36
NG_007117.1:g.4861_4881dup
NG_033074.1:g.4789_4809dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+49_-64+69dup ENSP00000450887.1:n.-64+49_-64+69dup
ENST00000556009.5:c.147+510_147+530dup
Search 100 bp 5'
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