Canonical Allele Identifier: CA2625667368
Gene: NPC2 HGNC NCBI

Linked Data

gnomAD v4: 14-74493492-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.74493492G>C , CM000676.2:g.74493492G>C GRCh38
NC_000014.8:g.74960195G>C , CM000676.1:g.74960195G>C GRCh37
NC_000014.7:g.74029948G>C NCBI36
NG_007117.1:g.4890C>G
NG_033074.1:g.4773G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000555592.1:c.-64+78C>G ENSP00000450887.1:n.-64+78C>G
ENST00000555619.5:c.-218C>G ENSP00000451112.1:n.-218C>G
ENST00000556009.5:c.147+539C>G
NM_001363688.1:c.-218C>G NP_001350617.1:n.-218C>G
NM_006432.4:c.-218C>G NP_006423.1:n.-218C>G
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