Canonical Allele Identifier: CA2625667290
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493439-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493439T>C , CM000676.2:g.74493439T>C GRCh38
NC_000014.8:g.74960142T>C , CM000676.1:g.74960142T>C GRCh37
NC_000014.7:g.74029895T>C NCBI36
NG_007117.1:g.4943A>G
NG_033074.1:g.4720T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-63-102A>G ENSP00000450887.1:n.-63-102A>G
ENST00000555619.5:c.-165A>G ENSP00000451112.1:n.-165A>G
ENST00000556009.5:c.147+592A>G
NM_001363688.1:c.-165A>G NP_001350617.1:n.-165A>G
NM_006432.4:c.-165A>G NP_006423.1:n.-165A>G
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