Canonical Allele Identifier: CA2625667275
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493409-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493409G>T , CM000676.2:g.74493409G>T GRCh38
NC_000014.8:g.74960112G>T , CM000676.1:g.74960112G>T GRCh37
NC_000014.7:g.74029865G>T NCBI36
NG_007117.1:g.4973C>A
NG_033074.1:g.4690G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-72C>A ENSP00000450887.1:n.-63-72C>A
ENST00000555619.5:c.-135C>A ENSP00000451112.1:n.-135C>A
ENST00000556009.5:c.147+622C>A
NM_001363688.1:c.-135C>A NP_001350617.1:n.-135C>A
NM_006432.4:c.-135C>A NP_006423.1:n.-135C>A
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