Canonical Allele Identifier: CA2147070132
Gene: NPC2 HGNC NCBI

Linked Data

dbSNP Id: rs2086803580
gnomAD v3: 14-74493552-T-TC
gnomAD v4: 14-74493552-T-TC
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493554dup , CM000676.2:g.74493554dup GRCh38
NC_000014.8:g.74960257dup , CM000676.1:g.74960257dup GRCh37
NC_000014.7:g.74030010dup NCBI36
NG_007117.1:g.4829dup
NG_033074.1:g.4835dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+17dup ENSP00000450887.1:n.-64+17dup
ENST00000556009.5:c.147+478dup
Search 100 bp 5'
Search 100 bp 3'